Primary Intestinal Lymphangiectasia: Difference between revisions

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{{CMG}} {{AE}} {{Mohamed riad}}
{{CMG}} {{AE}} {{Mohamed riad}}


{{SK}} PIL
{{SK}} PIL, Waldmann [[disease]], Waldmann's [[disease]]


==Overview==
==Overview==
Primary intestinal lymphangiectasia (Waldmann's disease) was first discovered by Waldmann T.A. in 1961 when he reported 18 cases of patients having edema with low serum albumin and gammaglobulin and proteins levels ''idiopathic hypercatabolic hypoproteinemia".'' PIL develops as a result of enlargement or dilatation of intestinal lymphatic vessels (lacteals) with leakage of their contents into the bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia, and lymphopenia. The cause of PIL has not been identified. The prevalence of PIL is unknown. It can be asymptomatic. It primarily affects children (generally diagnosed before the age of 3) and young adults but may be diagnosed later in adults. Symptoms include pitting edema, diarrhea, fatigue, abdominal discomfort, and malabsorption syndrome. PIL is diagnosed by biopsy revealing dilated intestinal lymphatics. Video-capsule endoscopy may be helpful when endoscopic findings are not conclusive. Common complications of PIL include infections, malignant transformation (lymphoma), and skin warts. There is no definitive treatment for PIL; the mainstay of therapy is a low-fat high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins. PIL is associated with significant morbidity and requires adherence to dietary modification and oral supplements; otherwise. it would be associated with poor outcomes and low quality of life. It can be fatal in some cases if anasarca or malignancy develops.
Primary [[intestinal]] lymphangiectasia ([[Waldmann disease|Waldmann's disease]]) was first discovered by Waldmann T.A. in 1961, when he reported 18 cases of [[patients]] having [[edema]] with low [[serum albumin]], [[gammaglobulin]], and [[proteins|protein]] levels and he called it <nowiki>''</nowiki>''[[idiopathic]] hypercatabolic [[hypoproteinemia]]".'' PIL develops as a [[result]] of [[Enlargement of organs|enlargement]] or [[dilatation]] of [[intestinal]] [[lymphatic vessels]] ([[lacteals]]) with [[Leak channel|leakage]] of their contents into the [[bowel]] [[lumen]] leading to [[hypoalbuminemia]], [[hypogammaglobulinemia]], and [[lymphopenia]]. The [[Causes|cause]] of PIL has not yet been identified. The [[prevalence]] of PIL is unknown. It can be [[asymptomatic]]. It primarily [[Affect|affects]] [[children]] (generally [[Diagnosis|diagnosed]] before the [[age]] of 3) and [[Young adult|young adults]] but may be [[Diagnosis|diagnosed]] later in [[Adult|adults]]. [[Symptoms]] include [[pitting edema]], [[diarrhea]], [[fatigue]], [[abdominal discomfort]], and [[malabsorption syndrome]]. PIL is [[Diagnosis|diagnosed]] by [[biopsy]] revealing [[Dilate|dilated]] [[intestinal]] [[lymphatics]]. Video-capsule [[endoscopy]] may be helpful when [[endoscopic]] findings are not conclusive. Common [[complications]] of PIL include [[infections]], [[malignant transformation]] ([[lymphoma]]), and [[skin]] [[warts]]. There is no definitive [[treatment]] for PIL; the mainstay of [[therapy]] is a low-[[fat]], high [[protein]] [[diet]] with [[Medium-chain fatty acids|medium-chain triglyceride]] [[Dietary supplement|oral supplementation]] and [[Supplements|supplemental]] [[calcium]] and [[vitamins]]. PIL is [[Association (statistics)|associated]] with [[Significance|significant]] [[morbidity]] and requires adherence to [[dietary]] [[Modifications (genetics)|modification]] and [[Dietary supplement|oral supplements]]; otherwise. it would be [[Association (statistics)|associated]] with poor [[Outcome|outcomes]] and low [[quality of life]]. It can be [[fatal]] in some cases if [[anasarca]] or [[malignancy]] develops.


==Historical Perspective==
==Historical Perspective==


*In 1961, primary intestinal lymphangiectasia (Waldmann<nowiki>'s disease) was first discovered by Waldmann T.A., who reported 18 cases of patients having edema with low serum albumin and gammaglobulin and proteins levels ''</nowiki>idiopathic hypercatabolic hypoproteinemia". Assessment using radio-labeled <sup>131</sup>I-albumin resulted in low levels in those patients. In addition, small intestinal biopsies were examined under a microscope revealing different degrees of [[lymphatic vessel]] [[dilatation]].<ref name="pmid18294365">{{cite journal| author=Vignes S, Bellanger J| title=Primary intestinal lymphangiectasia (Waldmann's disease). | journal=Orphanet J Rare Dis | year= 2008 | volume= 3 | issue=  | pages= 5 | pmid=18294365 | doi=10.1186/1750-1172-3-5 | pmc=2288596 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18294365  }}</ref><ref name="pmid13782654">{{cite journal| author=WALDMANN TA, STEINFELD JL, DUTCHER TF, DAVIDSON JD, GORDON RS| title=The role of the gastrointestinal system in "idiopathic hypoproteinemia". | journal=Gastroenterology | year= 1961 | volume= 41 | issue=  | pages= 197-207 | pmid=13782654 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13782654  }}</ref>
*In 1961, primary [[intestinal]] lymphangiectasia (Waldmann's [[disease]]) was first discovered by Waldmann T.A., who reported 18 cases of [[patients]] having [[edema]] with low [[serum albumin]], [[gammaglobulin]], and [[protein]] levels and he called it <nowiki>''</nowiki>[[idiopathic]] hypercatabolic [[hypoproteinemia]]". [[Assessment and Plan|Assessment]] using radio-labeled <sup>131</sup>I-[[albumin]] [[Result|resulted]] in low levels in those [[patients]]. In addition, [[small intestinal]] [[biopsies]] were examined under a [[microscope]] revealing different degrees of [[lymphatic vessel]] [[dilatation]].<ref name="pmid18294365">{{cite journal| author=Vignes S, Bellanger J| title=Primary intestinal lymphangiectasia (Waldmann's disease). | journal=Orphanet J Rare Dis | year= 2008 | volume= 3 | issue=  | pages= 5 | pmid=18294365 | doi=10.1186/1750-1172-3-5 | pmc=2288596 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18294365  }}</ref><ref name="pmid13782654">{{cite journal| author=WALDMANN TA, STEINFELD JL, DUTCHER TF, DAVIDSON JD, GORDON RS| title=The role of the gastrointestinal system in "idiopathic hypoproteinemia". | journal=Gastroenterology | year= 1961 | volume= 41 | issue=  | pages= 197-207 | pmid=13782654 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13782654  }}</ref>
*In 1964, Samman and White first described the [[yellow nail syndrome]], a very rare condition that may be associated with PIL. This syndrome is associated with the following symptoms:<ref name="SammanWhite1964">{{cite journal|last1=Samman|first1=Peter D.|last2=White|first2=William F.|title=THE "YELLOW NAIL" SYNDROME.|journal=British Journal of Dermatology|volume=76|issue=4|year=1964|pages=153–157|issn=0007-0963|doi=10.1111/j.1365-2133.1964.tb14499.x}}</ref>
*In 1964, Samman and White first described the [[yellow nail syndrome]], a very [[rare]] [[condition]] that may be [[Association (statistics)|associated]] with PIL. This [[syndrome]] is [[Association (statistics)|associated]] with the following [[symptoms]]:<ref name="SammanWhite1964">{{cite journal|last1=Samman|first1=Peter D.|last2=White|first2=William F.|title=THE "YELLOW NAIL" SYNDROME.|journal=British Journal of Dermatology|volume=76|issue=4|year=1964|pages=153–157|issn=0007-0963|doi=10.1111/j.1365-2133.1964.tb14499.x}}</ref>
**Dystrophic yellow nails
**[[Dystrophy|Dystrophic]] yellow [[nails]]
**Nail ridging
**[[Nail]] ridging
**Loss of lunula on the hands
**Loss of [[Lunula (anatomy)|lunula]]
**[[Lymphedema]]
**[[Lymphedema]]
**[[Pleural effusions]]
**[[Pleural effusions]]
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==Causes==
==Causes==
*The exact underlying [[Causes|cause]] of PIL has not yet been identified.
*The exact underlying [[Causes|cause]] of PIL has not yet been identified.
*[[Abnormal]] [[Gene expression|expression]] of the following several [[genes]] involved in the [[development]] of the [[lymphatic system]] is [[Association (statistics)|associated]] with PIL:<ref name="pmid18005011">{{cite journal| author=Hokari R, Kitagawa N, Watanabe C, Komoto S, Kurihara C, Okada Y | display-authors=etal| title=Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss. | journal=J Gastroenterol Hepatol | year= 2008 | volume= 23 | issue= 7 Pt 2 | pages= e88-95 | pmid=18005011 | doi=10.1111/j.1440-1746.2007.05225.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18005011  }} </ref>
*[[Abnormal]] [[Gene expression|expression]] of the following several [[genes]] involved in the [[development]] of the [[lymphatic system]] is [[Association (statistics)|associated]] with PIL:<ref name="pmid18005011">{{cite journal| author=Hokari R, Kitagawa N, Watanabe C, Komoto S, Kurihara C, Okada Y | display-authors=etal| title=Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss. | journal=J Gastroenterol Hepatol | year= 2008 | volume= 23 | issue= 7 Pt 2 | pages= e88-95 | pmid=18005011 | doi=10.1111/j.1440-1746.2007.05225.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18005011  }} </ref>
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==Differentiating PIL from other Diseases==
==Differentiating PIL from other Diseases==
*PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as:
 
**Intestinal [[tuberculosis]]
*PIL must be [[Differentiate|differentiated]] from the [[secondary]] [[causes]] that lead to [[intestinal]] lymphangiectasia such as:
**[[Intestinal]] [[tuberculosis]]
**[[Inflammatory bowel disease]]
**[[Inflammatory bowel disease]]
**Intestinal [[lymphoma]]
**[[Intestinal]] [[lymphoma]]
**[[Constrictive pericarditis]]
**[[Constrictive pericarditis]]
**[[Sarcoidosis]]
**[[Sarcoidosis]]
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**[[Whipple disease]]
**[[Whipple disease]]
**[[Radiation]] and/or [[chemotherapy]] with [[retroperitoneal fibrosis]]
**[[Radiation]] and/or [[chemotherapy]] with [[retroperitoneal fibrosis]]
**[[HIV]]-related enteropathy
**[[HIV]]-related [[enteropathy]]
*PIL must be differentiated from other diseases causing enteric loss of plasma proteins but do not involve intestinal lymphangiectasia such as:
*PIL must be [[Differentiate|differentiated]] from other [[diseases]] [[Causes|causing]] [[enteric]] loss of [[Plasma-protein|plasma proteins]] but do not involve [[intestinal]] lymphangiectasia such as:
**[[Menetrier's disease]]
**[[Menetrier's disease]]
**Inflammatory states of [[systemic lupus erythematosus]]
**[[Inflammatory]] states of [[systemic lupus erythematosus]]


{| class="wikitable"
{| class="wikitable"
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! style="background:#4479BA; color: #FFFFFF;" align="center" + |Diagnostic studies
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Diagnostic studies
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Intestinal Tuberculosis'''<ref name="pmid3249186">{{cite journal| author=Ploddi A, Atisook K, Hargrove NS| title=Intestinal lymphangiectasia in intraabdominal tuberculosis. | journal=J Med Assoc Thai | year= 1988 | volume= 71 | issue= 9 | pages= 518-23 | pmid=3249186 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3249186  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Intestinal]] [[Tuberculosis]]'''<ref name="pmid3249186">{{cite journal| author=Ploddi A, Atisook K, Hargrove NS| title=Intestinal lymphangiectasia in intraabdominal tuberculosis. | journal=J Med Assoc Thai | year= 1988 | volume= 71 | issue= 9 | pages= 518-23 | pmid=3249186 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3249186  }}</ref>
|
|
*[[Fever]]
*[[Fever]]
*[[Night sweats]]
*[[Night sweats]]
*Abdominal pain
*[[Abdominal pain]]
*Weight loss
*[[Weight loss]]
*[[Anemia]]
*[[Anemia]]
*Patients can present with obstructive symptoms
*[[Patients]] can [[Presenting symptom|present]] with [[Obstruction|obstructive]] [[symptoms]]
*Pain in right iliac fossa (RIF)
*[[Pain]] in [[right iliac fossa]] (RIF)
*Palpable mass in the right iliac fossa
*[[Palpable]] [[mass]] in the [[right iliac fossa]]
|
|
*Biopsy showing [[caseating]] [[granulomas]]
*[[Biopsy]] showing [[caseating]] [[granulomas]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Inflammatory bowel disease'''<ref name="pmid13834226">{{cite journal| author=STEINFELD JL, DAVIDSON JD, GORDON RS, GREENE FE| title=The mechanism of hypoproteinemia in patients with regional enteritis and ulcerative colitis. | journal=Am J Med | year= 1960 | volume= 29 | issue=  | pages= 405-15 | pmid=13834226 | doi=10.1016/0002-9343(60)90036-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13834226  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Inflammatory bowel disease]]'''<ref name="pmid13834226">{{cite journal| author=STEINFELD JL, DAVIDSON JD, GORDON RS, GREENE FE| title=The mechanism of hypoproteinemia in patients with regional enteritis and ulcerative colitis. | journal=Am J Med | year= 1960 | volume= 29 | issue=  | pages= 405-15 | pmid=13834226 | doi=10.1016/0002-9343(60)90036-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13834226  }}</ref>
|
|
*[[Abdominal pain]]
*[[Abdominal pain]]
*[[Bloody diarrhea]]
*[[Bloody diarrhea]]
*Weight loss
*[[Weight loss]]
*Fatigue
*[[Fatigue]]
*Fever
*[[Fever]]
*Arthritis
*[[Arthritis]]
*[[Uveitis]]
*[[Uveitis]]
*[[Erythema nodosum]]
*[[Erythema nodosum]]
|
|
*Endoscopy for [[Crohn's disease]]
*[[Endoscopy]] for [[Crohn's disease]]
*Colonoscopy for [[ulcerative colitis]]
*[[Colonoscopy]] for [[ulcerative colitis]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Intestinal lymphoma'''<ref name="pmid14103417">{{cite journal| author=SUM PT, HOFFMAN MM, WEBSTER DR| title=PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER. | journal=Can J Surg | year= 1964 | volume= 7 | issue=  | pages= 1-5 | pmid=14103417 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14103417  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Intestinal]] [[lymphoma]]'''<ref name="pmid14103417">{{cite journal| author=SUM PT, HOFFMAN MM, WEBSTER DR| title=PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER. | journal=Can J Surg | year= 1964 | volume= 7 | issue=  | pages= 1-5 | pmid=14103417 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14103417  }}</ref>
|
|
*Abdominal pain
*[[Abdominal pain]]
*[[Weight loss]]
*[[Weight loss]]
*Features of malabsorption
*[[Features (pattern recognition)|Features]] of [[malabsorption]]
*[[Rectal bleeding]]
*[[Rectal bleeding]]
*Features of [[bowel obstruction]]
*[[Features (pattern recognition)|Features]] of [[bowel obstruction]]
|
|
*Biopsy
*[[Biopsy]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Constrictive pericarditis'''<ref name="pmid5847556">{{cite journal| author=Wilkinson P, Pinto B, Senior JR| title=Reversible protein-losing enteropathy with intestinal lymphangiectasia secondary to chronic constrictive pericarditis. | journal=N Engl J Med | year= 1965 | volume= 273 | issue= 22 | pages= 1178-81 | pmid=5847556 | doi=10.1056/NEJM196511252732202 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5847556  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Constrictive pericarditis]]'''<ref name="pmid5847556">{{cite journal| author=Wilkinson P, Pinto B, Senior JR| title=Reversible protein-losing enteropathy with intestinal lymphangiectasia secondary to chronic constrictive pericarditis. | journal=N Engl J Med | year= 1965 | volume= 273 | issue= 22 | pages= 1178-81 | pmid=5847556 | doi=10.1056/NEJM196511252732202 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5847556  }}</ref>
|
|
*[[Chest pain]]
*[[Chest pain]]
*Fatigue
*[[Fatigue]]
*[[Dyspnea]]
*[[Dyspnea]]
*Abdominal swelling
*[[Abdominal swelling]]
*Lower limb swelling
*[[Lower limb]] [[swelling]]
*[[Palpitations]]
*[[Palpitations]]
|
|
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*[[MRI]]
*[[MRI]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Sarcoidosis'''<ref name="pmid7350018">{{cite journal| author=Popović OS, Brkić S, Bojić P, Kenić V, Jojić N, Djurić V | display-authors=etal| title=Sarcoidosis and protein losing enteropathy. | journal=Gastroenterology | year= 1980 | volume= 78 | issue= 1 | pages= 119-25 | pmid=7350018 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7350018  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Sarcoidosis]]'''<ref name="pmid7350018">{{cite journal| author=Popović OS, Brkić S, Bojić P, Kenić V, Jojić N, Djurić V | display-authors=etal| title=Sarcoidosis and protein losing enteropathy. | journal=Gastroenterology | year= 1980 | volume= 78 | issue= 1 | pages= 119-25 | pmid=7350018 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7350018  }}</ref>
|
|
*[[Cough]]
*[[Cough]]
*Dyspnea
*[[Dyspnea]]
*Fatigue
*[[Fatigue]]
*Swollen painful joints
*[[Swelling|Swollen]] [[painful]] [[joints]]
*Tender reddish bumps on the skin
*[[Tenderness|Tender]] reddish [[bumps on skin]]
*Enlarged and tender [[lymph nodes]]
*[[Enlarged Lymph Nodes|Enlarged]] and [[Tenderness (medicine)|tender]] [[lymph nodes]]
*[[Renal stones]]
*[[Renal stones]]
*[[Arrhythmia]]
*[[Arrhythmia]]
*Neuropsychiatric manifestations
*[[Neuropsychiatric]] manifestations
|
|
*Chest X-ray
*[[Chest X-ray]]
*[[Bronchoscopy]] with [[biopsy]]
*[[Bronchoscopy]] with [[biopsy]]


*Lab investigations showing elevated serum [[angiotensin-converting enzyme]] (ACE) and [[hypercalcemia]]
*[[Laboratory|Lab]] investigations showing elevated [[serum]] [[angiotensin-converting enzyme]] ([[ACE]]) and [[hypercalcemia]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Systemic sclerosis'''<ref name="pmid3195550">{{cite journal| author=van Tilburg AJ, van Blankenstein M, Verschoor L| title=Intestinal lymphangiectasia in systemic sclerosis. | journal=Am J Gastroenterol | year= 1988 | volume= 83 | issue= 12 | pages= 1418-9 | pmid=3195550 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3195550  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Systemic sclerosis]]'''<ref name="pmid3195550">{{cite journal| author=van Tilburg AJ, van Blankenstein M, Verschoor L| title=Intestinal lymphangiectasia in systemic sclerosis. | journal=Am J Gastroenterol | year= 1988 | volume= 83 | issue= 12 | pages= 1418-9 | pmid=3195550 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3195550  }}</ref>
|
|
*Skin hardening and thickening
*[[Skin]] hardening and thickening
*[[Reflux esophagitis]]
*[[Reflux esophagitis]]
*[[Esophageal stricture]]
*[[Esophageal stricture]]
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*[[Raynaud's phenomenon]]
*[[Raynaud's phenomenon]]
*[[Calcinosis]]
*[[Calcinosis]]
*Dyspnea
*[[Dyspnea]]
*[[Renal failure]]
*[[Renal failure]]
|
|
*Presence of [[autoantibodies]] (specifically anti-centromere and anti-scl70/anti-topoisomerase antibodies)
*Presence of [[autoantibodies]] (specifically [[Anti-centromere antibodies|anti-centromere]] and anti-scl70/[[anti-topoisomerase antibodies]])
*Biopsy (occasionally)
*[[Biopsy]] (occasionally)
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Whipple disease'''<ref name="pmid4160668">{{cite journal| author=Laster L, Waldmann TA, Fenster LF, Singleton JW| title=Albumin metabolism in patients with Whipple's disease. | journal=J Clin Invest | year= 1966 | volume= 45 | issue= 5 | pages= 637-44 | pmid=4160668 | doi=10.1172/JCI105379 | pmc=292741 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4160668  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Whipple disease]]'''<ref name="pmid4160668">{{cite journal| author=Laster L, Waldmann TA, Fenster LF, Singleton JW| title=Albumin metabolism in patients with Whipple's disease. | journal=J Clin Invest | year= 1966 | volume= 45 | issue= 5 | pages= 637-44 | pmid=4160668 | doi=10.1172/JCI105379 | pmc=292741 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4160668  }}</ref>
|
|
*Abdominal pain
*[[Abdominal pain]]
*Features of malabsorption
*[[Features (pattern recognition)|Features]] of [[malabsorption]]
*[[Weight loss]]
*[[Weight loss]]
*Lymph node enlargement
*[[Lymph nodes enlarged|Lymph node enlargement]]
*Migratory [[arthropathy]]
*Migratory [[arthropathy]]
*Neurological manifestations such as:
*[[Neurological]] manifestations such as:
**[[Confusion]]
**[[Confusion]]
**[[Memory loss]]
**[[Memory loss]]
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**[[Seizures]]
**[[Seizures]]
|
|
*Duodenal [[endoscopy]] with biopsy, which reveals PAS-positive [[macrophages]] in the [[lamina propria]] containing non-acid-fast, [[Gram-positive]] [[bacilli]]
*[[Duodenal]] [[endoscopy]] with [[biopsy]], which reveals [[PAS stain|PAS]]-positive [[macrophages]] in the [[lamina propria]] containing non-[[Acid-fast bacillus|acid-fast]], [[Gram-positive]] [[bacilli]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Radiation and/or chemotherapy with retroperitoneal fibrosis'''<ref name="pmid3608736">{{cite journal| author=Rao SS, Dundas S, Holdsworth CD| title=Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy. | journal=Dig Dis Sci | year= 1987 | volume= 32 | issue= 8 | pages= 939-42 | pmid=3608736 | doi=10.1007/BF01296718 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3608736  }}</ref>
| align="center" style="background:#DCDCDC;" + |'''[[Radiation]] and/or [[chemotherapy]] with [[retroperitoneal fibrosis]]'''<ref name="pmid3608736">{{cite journal| author=Rao SS, Dundas S, Holdsworth CD| title=Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy. | journal=Dig Dis Sci | year= 1987 | volume= 32 | issue= 8 | pages= 939-42 | pmid=3608736 | doi=10.1007/BF01296718 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3608736  }}</ref>
|
|
*[[Flank pain]]
*[[Flank pain]]
*Abdominal pain
*[[Abdominal pain]]
*Unilateral or bilateral lower extremity swelling
*[[Unilateral leg edema|Unilateral]] or bilateral [[lower extremity swelling]]
*Unexplained systemic symptoms such as:
*Unexplained [[systemic]] [[symptoms]] such as:
**Fatigue
**[[Fatigue]]
**Weight loss
**[[Weight loss]]
|
|
*Biopsy  showing fibro-inflammatory tissue without malignancy
*[[Biopsy]] showing [[Fibrous|fibro]]-[[inflammatory]] [[tissue]] without [[malignancy]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''HIV-related enteropathy'''<ref name="pmid9456254">{{cite journal| author=Stockmann M, Fromm M, Schmitz H, Schmidt W, Riecken EO, Schulzke JD| title=Duodenal biopsies of HIV-infected patients with diarrhoea exhibit epithelial barrier defects but no active secretion. | journal=AIDS | year= 1998 | volume= 12 | issue= 1 | pages= 43-51 | pmid=9456254 | doi=10.1097/00002030-199801000-00006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9456254  }} </ref>
| align="center" style="background:#DCDCDC;" + |'''[[Human Immunodeficiency Virus (HIV)|HIV]]-related [[enteropathy]]'''<ref name="pmid9456254">{{cite journal| author=Stockmann M, Fromm M, Schmitz H, Schmidt W, Riecken EO, Schulzke JD| title=Duodenal biopsies of HIV-infected patients with diarrhoea exhibit epithelial barrier defects but no active secretion. | journal=AIDS | year= 1998 | volume= 12 | issue= 1 | pages= 43-51 | pmid=9456254 | doi=10.1097/00002030-199801000-00006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9456254  }} </ref>
|
|
*Persistent [[diarrhea]]
*Persistent [[diarrhea]]
*[[Malnutrition]]
*[[Malnutrition]]
*Weight loss
*[[Weight loss]]
|
|
*Biopsy; however the diagnosis is challenging
*[[Biopsy]]; however the [[diagnosis]] is [[Challenging behaviour|challenging]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Menetrier's disease'''
| align="center" style="background:#DCDCDC;" + |'''[[Ménétrier's disease|Menetrier's disease]]'''
|
|
*[[Epigastric pain]]
*[[Epigastric pain]]
*[[Nausea]]
*[[Nausea]]
*[[Vomiting]]
*[[Vomiting]]
*Loss of appetite
*[[Loss of appetite]]
*Edema
*[[Edema]]
|
|
*X-ray after [[barium meal]]
*[[X-ray]] after [[barium meal]]
*Endoscopy with deep mucosal biopsy and [[cytology]]
*[[Endoscopy]] with deep [[mucosal]] [[biopsy]] and [[cytology]]
|-
|-
| align="center" style="background:#DCDCDC;" + |'''Inflammatory states of systemic lupus erythematosus'''
| align="center" style="background:#DCDCDC;" + |'''[[Inflammatory]] states of [[systemic lupus erythematosus]]'''
|
|
*[[Malar rash]]
*[[Malar rash]]
Line 218: Line 220:
*[[Lupus nephritis]]
*[[Lupus nephritis]]
|
|
*Presence of [[antinuclear antibody]] (ANA) or anti-dsDNA antibodies which are highly specific
*Presence of [[antinuclear antibody]] ([[ANA]]) or [[Anti-dsDNA antbodies|anti-dsDNA antibodies]] which are highly specific
|}
|}


==Epidemiology and Demographics==
==Epidemiology and Demographics==
*The prevalence of PIL is unknown as it can be [[asymptomatic]].
 
*It primarily affects children (generally diagnosed before the age of 3) and young adults but may be diagnosed later in adults.<ref name="pmid50050">{{cite journal| author=Tift WL, Lloyd JK| title=Intestinal lymphangiectasia. Long-term results with MCT diet. | journal=Arch Dis Child | year= 1975 | volume= 50 | issue= 4 | pages= 269-76 | pmid=50050 | doi=10.1136/adc.50.4.269 | pmc=1544468 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50050  }} </ref>
*The [[prevalence]] of PIL is unknown as it can be [[asymptomatic]].
*There are rare [[familial]] forms that have been reported.
*It primarily [[Affect|affects]] [[children]] (generally [[Diagnosis|diagnosed]] before the [[age]] of 3) and [[young adults]] but may be [[Diagnosis|diagnosed]] later in [[Adult|adults]].<ref name="pmid50050">{{cite journal| author=Tift WL, Lloyd JK| title=Intestinal lymphangiectasia. Long-term results with MCT diet. | journal=Arch Dis Child | year= 1975 | volume= 50 | issue= 4 | pages= 269-76 | pmid=50050 | doi=10.1136/adc.50.4.269 | pmc=1544468 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=50050  }} </ref>
*There are rare [[familial]] forms that have been [[Reporting results|reported]].


===Age===
===Age===
*PIL is more commonly observed among children (less than 3 years old) and young adults.
 
*PIL is more commonly observed among [[children]] (less than 3 [[Year|years]] old) and [[young adults]].


===Race===
===Race===
*There is no racial predilection for PIL.
 
*There is no [[racial]] predilection for PIL.


==Risk Factors==
==Risk Factors==
*In 1964, Samman and White first described the yellow nail syndrome, a very rare condition that may be associated with PIL. This syndrome is associated with the following symptoms:<ref name="SammanWhite1964">{{cite journal|last1=Samman|first1=Peter D.|last2=White|first2=William F.|title=THE "YELLOW NAIL" SYNDROME.|journal=British Journal of Dermatology|volume=76|issue=4|year=1964|pages=153–157|issn=0007-0963|doi=10.1111/j.1365-2133.1964.tb14499.x}}</ref>
 
**Dystrophic yellow nails
*In 1964, Samman and White first described the [[yellow nail syndrome]], a very [[rare]] [[condition]] that may be [[Association (statistics)|associated]] with PIL. This [[syndrome]] is [[Association (statistics)|associated]] with the following [[symptoms]]:<ref name="SammanWhite1964">{{cite journal|last1=Samman|first1=Peter D.|last2=White|first2=William F.|title=THE "YELLOW NAIL" SYNDROME.|journal=British Journal of Dermatology|volume=76|issue=4|year=1964|pages=153–157|issn=0007-0963|doi=10.1111/j.1365-2133.1964.tb14499.x}}</ref>
**Nail ridging
**[[Dystrophy|Dystrophic]] yellow [[nails]]
**Loss of [[lunula]] on the hands
**[[Nail (anatomy)|Nail]] ridging
**Lymphedema
**Loss of [[lunula]]
**Pleural effusions
**[[Lymphedema]]
*Other five syndromes considered as risk factors and associated with intestinal lymphangiectasia include:<ref name="pmid2624276">{{cite journal| author=Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA | display-authors=etal| title=Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. | journal=Am J Med Genet | year= 1989 | volume= 34 | issue= 4 | pages= 593-600 | pmid=2624276 | doi=10.1002/ajmg.1320340429 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2624276  }} </ref>
**[[Pleural effusions]]
**von Recklinghausen disease or [[Neurofibromatosis 1]] (NF1)
*Other five [[syndromes]] considered as [[risk factors]] and [[Association (statistics)|associated]] with primary [[intestinal]] lymphangiectasia include:<ref name="pmid2624276">{{cite journal| author=Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA | display-authors=etal| title=Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. | journal=Am J Med Genet | year= 1989 | volume= 34 | issue= 4 | pages= 593-600 | pmid=2624276 | doi=10.1002/ajmg.1320340429 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2624276  }} </ref>
**[[von Recklinghausen disease]] or [[Neurofibromatosis 1]] ([[NF1]])
**[[Turner syndrome]] (X0)
**[[Turner syndrome]] (X0)
**[[Noonan syndrome]]
**[[Noonan syndrome]]
Line 247: Line 253:


==Natural History, Complications and Prognosis==
==Natural History, Complications and Prognosis==
*The majority of patients with PIL remain asymptomatic for years.
 
*Early clinical features include edema of the lower limbs, diarrhea, and steatorrhea.
*The majority of [[patients]] with PIL remain [[asymptomatic]] for [[Year|years]].
*If left untreated, patients with PIL may progress to develop edema of the [[external genitalia]], edema of serous membranes, and life-threatening anasarca.
*Early [[clinical]] [[Features (pattern recognition)|features]] include [[edema]] of the [[lower limbs]], [[diarrhea]], and [[steatorrhea]].
*Common complications of PIL include:
*If left untreated, [[patients]] with PIL may progress to [[Development|develop]] [[edema]] of the [[external genitalia]], [[edema]] of [[Serous membrane|serous membranes]], and life-threatening [[anasarca]].
**Infections such as:
*Common [[complications]] of PIL include:
***Group G streptococcal [[empyema]]<ref name="pmid12960729">{{cite journal| author=Hallevy C, Sperber AD, Almog Y| title=Group G streptococcal empyema complicating primary intestinal lymphangiectasia. | journal=J Clin Gastroenterol | year= 2003 | volume= 37 | issue= 3 | pages= 270 | pmid=12960729 | doi=10.1097/00004836-200309000-00015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12960729  }} </ref>
**[[Infections]] such as:
***Cryptococcal [[meningitis]]<ref name="pmid22919199">{{cite journal| author=Jabeen SA, Murthy A, Kandadai RM, Meena AK, Borgohain R, Uppin MS| title=Cryptoccocal menigitis as a primary manifestation in a patient with intestinal lymphangictasia. | journal=Ann Indian Acad Neurol | year= 2012 | volume= 15 | issue= 3 | pages= 218-20 | pmid=22919199 | doi=10.4103/0972-2327.99725 | pmc=3424804 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22919199  }} </ref>
***Group G [[streptococcal]] [[empyema]]<ref name="pmid12960729">{{cite journal| author=Hallevy C, Sperber AD, Almog Y| title=Group G streptococcal empyema complicating primary intestinal lymphangiectasia. | journal=J Clin Gastroenterol | year= 2003 | volume= 37 | issue= 3 | pages= 270 | pmid=12960729 | doi=10.1097/00004836-200309000-00015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12960729  }} </ref>
***[[Cryptococcal Meningitis|Cryptococcal meningitis]]<ref name="pmid22919199">{{cite journal| author=Jabeen SA, Murthy A, Kandadai RM, Meena AK, Borgohain R, Uppin MS| title=Cryptoccocal menigitis as a primary manifestation in a patient with intestinal lymphangictasia. | journal=Ann Indian Acad Neurol | year= 2012 | volume= 15 | issue= 3 | pages= 218-20 | pmid=22919199 | doi=10.4103/0972-2327.99725 | pmc=3424804 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22919199  }} </ref>
**[[Malignant]] [[transformation]] ([[lymphoma]])<ref name="pmid604991">{{cite journal| author=Ward M, Le Roux A, Small WP, Sircus W| title=Malignant lymphoma and extensive viral wart formation in a patient with intestinal lymphangiectasia and lymphocyte depletion. | journal=Postgrad Med J | year= 1977 | volume= 53 | issue= 626 | pages= 753-7 | pmid=604991 | doi=10.1136/pgmj.53.626.753 | pmc=2496800 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=604991  }} </ref><ref name="pmid9932170">{{cite journal| author=Gumà J, Rubió J, Masip C, Alvaro T, Borràs JL| title=Aggressive bowel lymphoma in a patient with intestinal lymphangiectasia and widespread viral warts. | journal=Ann Oncol | year= 1998 | volume= 9 | issue= 12 | pages= 1355-6 | pmid=9932170 | doi=10.1023/a:1008496900822 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9932170  }} </ref><ref name="pmid10896925">{{cite journal| author=Bouhnik Y, Etienney I, Nemeth J, Thevenot T, Lavergne-Slove A, Matuchansky C| title=Very late onset small intestinal B cell lymphoma associated with primary intestinal lymphangiectasia and diffuse cutaneous warts. | journal=Gut | year= 2000 | volume= 47 | issue= 2 | pages= 296-300 | pmid=10896925 | doi=10.1136/gut.47.2.296 | pmc=1728014 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10896925  }} </ref><ref name="pmid7450403">{{cite journal| author=Broder S, Callihan TR, Jaffe ES, DeVita VT, Strober W, Bartter FC | display-authors=etal| title=Resolution of longstanding protein-losing enteropathy in a patient with intestinal lymphangiectasia after treatment for malignant lymphoma. | journal=Gastroenterology | year= 1981 | volume= 80 | issue= 1 | pages= 166-8 | pmid=7450403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7450403  }} </ref><ref name="pmid4554185">{{cite journal| author=Weiden PL, Blaese RM, Strober W, Block JB, Waldmann TA| title=Impaired lymphocyte transformation in intestinal lymphangiectasia: evidence for at least two functionally distinct lymphocyte populations in man. | journal=J Clin Invest | year= 1972 | volume= 51 | issue= 6 | pages= 1319-25 | pmid=4554185 | doi=10.1172/JCI106928 | pmc=292269 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4554185  }} </ref>
**[[Malignant]] [[transformation]] ([[lymphoma]])<ref name="pmid604991">{{cite journal| author=Ward M, Le Roux A, Small WP, Sircus W| title=Malignant lymphoma and extensive viral wart formation in a patient with intestinal lymphangiectasia and lymphocyte depletion. | journal=Postgrad Med J | year= 1977 | volume= 53 | issue= 626 | pages= 753-7 | pmid=604991 | doi=10.1136/pgmj.53.626.753 | pmc=2496800 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=604991  }} </ref><ref name="pmid9932170">{{cite journal| author=Gumà J, Rubió J, Masip C, Alvaro T, Borràs JL| title=Aggressive bowel lymphoma in a patient with intestinal lymphangiectasia and widespread viral warts. | journal=Ann Oncol | year= 1998 | volume= 9 | issue= 12 | pages= 1355-6 | pmid=9932170 | doi=10.1023/a:1008496900822 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9932170  }} </ref><ref name="pmid10896925">{{cite journal| author=Bouhnik Y, Etienney I, Nemeth J, Thevenot T, Lavergne-Slove A, Matuchansky C| title=Very late onset small intestinal B cell lymphoma associated with primary intestinal lymphangiectasia and diffuse cutaneous warts. | journal=Gut | year= 2000 | volume= 47 | issue= 2 | pages= 296-300 | pmid=10896925 | doi=10.1136/gut.47.2.296 | pmc=1728014 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10896925  }} </ref><ref name="pmid7450403">{{cite journal| author=Broder S, Callihan TR, Jaffe ES, DeVita VT, Strober W, Bartter FC | display-authors=etal| title=Resolution of longstanding protein-losing enteropathy in a patient with intestinal lymphangiectasia after treatment for malignant lymphoma. | journal=Gastroenterology | year= 1981 | volume= 80 | issue= 1 | pages= 166-8 | pmid=7450403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7450403  }} </ref><ref name="pmid4554185">{{cite journal| author=Weiden PL, Blaese RM, Strober W, Block JB, Waldmann TA| title=Impaired lymphocyte transformation in intestinal lymphangiectasia: evidence for at least two functionally distinct lymphocyte populations in man. | journal=J Clin Invest | year= 1972 | volume= 51 | issue= 6 | pages= 1319-25 | pmid=4554185 | doi=10.1172/JCI106928 | pmc=292269 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4554185  }} </ref>
**Skin [[warts]]<ref name="pmid604991">{{cite journal| author=Ward M, Le Roux A, Small WP, Sircus W| title=Malignant lymphoma and extensive viral wart formation in a patient with intestinal lymphangiectasia and lymphocyte depletion. | journal=Postgrad Med J | year= 1977 | volume= 53 | issue= 626 | pages= 753-7 | pmid=604991 | doi=10.1136/pgmj.53.626.753 | pmc=2496800 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=604991  }} </ref><ref name="pmid9932170">{{cite journal| author=Gumà J, Rubió J, Masip C, Alvaro T, Borràs JL| title=Aggressive bowel lymphoma in a patient with intestinal lymphangiectasia and widespread viral warts. | journal=Ann Oncol | year= 1998 | volume= 9 | issue= 12 | pages= 1355-6 | pmid=9932170 | doi=10.1023/a:1008496900822 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9932170  }} </ref>
**[[Skin]] [[warts]]<ref name="pmid604991">{{cite journal| author=Ward M, Le Roux A, Small WP, Sircus W| title=Malignant lymphoma and extensive viral wart formation in a patient with intestinal lymphangiectasia and lymphocyte depletion. | journal=Postgrad Med J | year= 1977 | volume= 53 | issue= 626 | pages= 753-7 | pmid=604991 | doi=10.1136/pgmj.53.626.753 | pmc=2496800 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=604991  }} </ref><ref name="pmid9932170">{{cite journal| author=Gumà J, Rubió J, Masip C, Alvaro T, Borràs JL| title=Aggressive bowel lymphoma in a patient with intestinal lymphangiectasia and widespread viral warts. | journal=Ann Oncol | year= 1998 | volume= 9 | issue= 12 | pages= 1355-6 | pmid=9932170 | doi=10.1023/a:1008496900822 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9932170  }} </ref>
*A very rare complication is the gelatinous transformation of bone marrow in which hematopoietic cells and adipocytes are replaced by amorphous extracellular material composed of acid [[mucopolysaccharides]].<ref name="pmid10403358">{{cite journal| author=Marie I, Levesque H, Heron F, Courtois H, Callat MP| title=Gelatinous transformation of the bone marrow: an uncommon manifestation of intestinal lymphangiectasia (Waldmann's disease) | journal=Am J Med | year= 1999 | volume= 107 | issue= 1 | pages= 99-100 | pmid=10403358 | doi=10.1016/s0002-9343(99)00035-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10403358  }} </ref>
*A very [[rare]] [[Complications|complication]] is the gelatinous [[transformation]] of [[bone marrow]] in which [[Hematopoietic cell|hematopoietic cells]] and [[adipocytes]] are replaced by [[amorphous]] [[extracellular]] material composed of [[acid]] [[mucopolysaccharides]].<ref name="pmid10403358">{{cite journal| author=Marie I, Levesque H, Heron F, Courtois H, Callat MP| title=Gelatinous transformation of the bone marrow: an uncommon manifestation of intestinal lymphangiectasia (Waldmann's disease) | journal=Am J Med | year= 1999 | volume= 107 | issue= 1 | pages= 99-100 | pmid=10403358 | doi=10.1016/s0002-9343(99)00035-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10403358  }} </ref>
*PIL is associated with significant [[morbidity]] and requires adherence to dietary modification and oral supplements; otherwise. it would be associated with poor outcomes and low quality of life. It can be fatal in some cases if [[anasarca]] or malignancy develops.
*PIL is [[Association (statistics)|associated]] with [[Significance|significant]] [[morbidity]] and requires adherence to [[dietary]] modification and [[Dietary supplement|oral supplements]]; otherwise. it would be [[Association (statistics)|associated]] with poor [[Outcome|outcomes]] and low [[quality of life]].
*It can be [[fatal]] in some cases if [[anasarca]] or [[malignancy]] [[Development|develops]].


==Diagnosis==
==Diagnosis==
===Diagnostic Criteria===
===Diagnostic Criteria===
====Biopsy====
====Biopsy====
*PIL is diagnosed by biopsy revealing dilated intestinal lymphatics.
 
*PIL is [[Diagnosis|diagnosed]] by [[biopsy]] revealing [[Dilate|dilated]] [[intestinal]] [[lymphatics]].


====Video-capsule endoscopy====
====Video-capsule endoscopy====
*Video-[[capsule endoscopy]] may be helpful when endoscopic findings are not conclusive.
 
*Video-[[capsule endoscopy]] may be helpful when [[endoscopic]] findings are not conclusive.


===History and Symptoms===
===History and Symptoms===
*The hallmark of PIL is [[pitting edema]] which usually affects lower limbs in moderate cases and face and external genitalia in severe cases. In some cases, it can extend to serous membranes causing [[pericardial effusion]], [[pleural effusion]], and [[chylous ascites]]. Rarely, it can cause [[anasarca]].
 
*Other symptoms include:
*The [[hallmark]] of PIL is [[pitting edema]] which usually [[Affect|affects]] [[lower limbs]] in moderate cases whereas [[face]] and [[external genitalia]] in severe cases. In some cases, it can extend to [[Serous membrane|serous membranes]] causing [[pericardial effusion]], [[pleural effusion]], and [[chylous ascites]]. Rarely, it can [[Causes|cause]] [[anasarca]].
*Other [[symptoms]] include:
**[[Diarrhea]]
**[[Diarrhea]]
**[[Steatorrhea]]
**[[Steatorrhea]]
**[[Malabsorption syndrome]]<ref name="pmid15117239">{{cite journal| author=Lobo B, Casellas F, de Torres I, Chicharro L, Malagelada JR| title=Usefulness of jejunal biopsy in the study of intestinal malabsorption in the elderly. | journal=Rev Esp Enferm Dig | year= 2004 | volume= 96 | issue= 4 | pages= 259-64 | pmid=15117239 | doi=10.4321/s1130-01082004000400005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15117239  }}</ref>
**[[Malabsorption syndrome]]<ref name="pmid15117239">{{cite journal| author=Lobo B, Casellas F, de Torres I, Chicharro L, Malagelada JR| title=Usefulness of jejunal biopsy in the study of intestinal malabsorption in the elderly. | journal=Rev Esp Enferm Dig | year= 2004 | volume= 96 | issue= 4 | pages= 259-64 | pmid=15117239 | doi=10.4321/s1130-01082004000400005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15117239  }}</ref>
**Fatigue
**[[Fatigue]]
**[[Abdominal pain]]
**[[Abdominal pain]]
**Abdominal mass<ref name="pmid17321261">{{cite journal| author=Rao R, Shashidhar H| title=Intestinal lymphangiectasia presenting as abdominal mass. | journal=Gastrointest Endosc | year= 2007 | volume= 65 | issue= 3 | pages= 522-3, discussion 523 | pmid=17321261 | doi=10.1016/j.gie.2006.10.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17321261  }}</ref>
**[[Abdominal mass]]<ref name="pmid17321261">{{cite journal| author=Rao R, Shashidhar H| title=Intestinal lymphangiectasia presenting as abdominal mass. | journal=Gastrointest Endosc | year= 2007 | volume= 65 | issue= 3 | pages= 522-3, discussion 523 | pmid=17321261 | doi=10.1016/j.gie.2006.10.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17321261  }}</ref>
**Immunodeficiency
**[[Immunodeficiency]]
**[[Vitamin D]] deficiency Leading to [[osteomalacia]] and [[convulsions]]
**[[Vitamin D]] [[deficiency]] leading to [[osteomalacia]] and [[convulsions]]
**[[Iron deficiency anemia]]
**[[Iron deficiency anemia]]
**Mechanical [[ileus]]<ref name="pmid8374252">{{cite journal| author=Lenzhofer R, Lindner M, Moser A, Berger J, Schuschnigg C, Thurner J| title=Acute jejunal ileus in intestinal lymphangiectasia. | journal=Clin Investig | year= 1993 | volume= 71 | issue= 7 | pages= 568-71 | pmid=8374252 | doi=10.1007/BF00208483 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8374252  }}</ref>
**Mechanical [[ileus]]<ref name="pmid8374252">{{cite journal| author=Lenzhofer R, Lindner M, Moser A, Berger J, Schuschnigg C, Thurner J| title=Acute jejunal ileus in intestinal lymphangiectasia. | journal=Clin Investig | year= 1993 | volume= 71 | issue= 7 | pages= 568-71 | pmid=8374252 | doi=10.1007/BF00208483 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8374252  }}</ref>
**Chylous [[reflux]] into skin<ref name="pmid2032374">{{cite journal| author=O'Driscoll JB, Chalmers RJ, Warnes TW| title=Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia. | journal=Clin Exp Dermatol | year= 1991 | volume= 16 | issue= 2 | pages= 124-6 | pmid=2032374 | doi=10.1111/j.1365-2230.1991.tb00322.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2032374  }}</ref>
**Chylous [[reflux]] into [[skin]]<ref name="pmid2032374">{{cite journal| author=O'Driscoll JB, Chalmers RJ, Warnes TW| title=Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia. | journal=Clin Exp Dermatol | year= 1991 | volume= 16 | issue= 2 | pages= 124-6 | pmid=2032374 | doi=10.1111/j.1365-2230.1991.tb00322.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2032374  }}</ref>
**[[Necrolytic migratory erythema]]<ref name="pmid17053741">{{cite journal| author=Baricault S, Soubrane JC, Courville P, Young P, Joly P| title=[Necrolytic migratory erythema in Waldmann's disease]. | journal=Ann Dermatol Venereol | year= 2006 | volume= 133 | issue= 8-9 Pt 1 | pages= 693-6 | pmid=17053741 | doi=10.1016/s0151-9638(06)70994-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17053741  }} </ref>
**[[Necrolytic migratory erythema]]<ref name="pmid17053741">{{cite journal| author=Baricault S, Soubrane JC, Courville P, Young P, Joly P| title=[Necrolytic migratory erythema in Waldmann's disease]. | journal=Ann Dermatol Venereol | year= 2006 | volume= 133 | issue= 8-9 Pt 1 | pages= 693-6 | pmid=17053741 | doi=10.1016/s0151-9638(06)70994-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17053741  }} </ref>
**Recurrent GI bleeding.<ref name="pmid17476211">{{cite journal| author=Herfarth H, Hofstädter F, Feuerbach S, Jürgen Schlitt H, Schölmerich J, Rogler G| title=A case of recurrent gastrointestinal bleeding and protein-losing gastroenteropathy. | journal=Nat Clin Pract Gastroenterol Hepatol | year= 2007 | volume= 4 | issue= 5 | pages= 288-93 | pmid=17476211 | doi=10.1038/ncpgasthep0812 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17476211  }}</ref>
**Recurrent [[GI bleeding]]<ref name="pmid17476211">{{cite journal| author=Herfarth H, Hofstädter F, Feuerbach S, Jürgen Schlitt H, Schölmerich J, Rogler G| title=A case of recurrent gastrointestinal bleeding and protein-losing gastroenteropathy. | journal=Nat Clin Pract Gastroenterol Hepatol | year= 2007 | volume= 4 | issue= 5 | pages= 288-93 | pmid=17476211 | doi=10.1038/ncpgasthep0812 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17476211  }}</ref>
**Recurrent [[hemolytic uremic syndrome]].<ref name="pmid17514630">{{cite journal| author=Kalman S, Bakkaloğlu S, Dalgiç B, Ozkaya O, Söylemezoğlu O, Buyan N| title=Recurrent hemolytic uremic syndrome associated with intestinal lymphangiectasia. | journal=J Nephrol | year= 2007 | volume= 20 | issue= 2 | pages= 246-9 | pmid=17514630 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17514630  }} </ref>
**Recurrent [[hemolytic uremic syndrome]]<ref name="pmid17514630">{{cite journal| author=Kalman S, Bakkaloğlu S, Dalgiç B, Ozkaya O, Söylemezoğlu O, Buyan N| title=Recurrent hemolytic uremic syndrome associated with intestinal lymphangiectasia. | journal=J Nephrol | year= 2007 | volume= 20 | issue= 2 | pages= 246-9 | pmid=17514630 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17514630  }} </ref>
**Children have [[growth retardation]], abdominal pain, nausea, and [[vomiting]].
**[[Children]] have [[growth retardation]], [[abdominal pain]], [[Nausea and vomiting|nausea, and vomiting]]
**[[Lymphedema]] may be associated with PIL:<ref name="pmid16174162">{{cite journal| author=Goktan C, Pekindil G, Orguc S, Coskun T, Serter S| title=Bilateral breast edema in intestinal lymphangiectasia. | journal=Breast J | year= 2005 | volume= 11 | issue= 5 | pages= 360 | pmid=16174162 | doi=10.1111/j.1075-122X.2005.21578.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16174162  }} </ref>
**[[Lymphedema]] may be [[Association (statistics)|associated]] with PIL:<ref name="pmid16174162">{{cite journal| author=Goktan C, Pekindil G, Orguc S, Coskun T, Serter S| title=Bilateral breast edema in intestinal lymphangiectasia. | journal=Breast J | year= 2005 | volume= 11 | issue= 5 | pages= 360 | pmid=16174162 | doi=10.1111/j.1075-122X.2005.21578.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16174162  }} </ref>
***It is less pitting and usually localized to the lower limbs; however, it may involve the upper limbs, breast, and external genitalia.
***It is less [[Pitting edema|pitting]] and usually [[Localized oedema|localized]] to the [[lower limbs]]; however, it may involve the [[upper limbs]], [[Breast|breasts]], and [[external genitalia]].
***Stemmer sign differentiates lymphedema from the pitting edema; in lymphedema, it is impossible to lift and wrinkle the dorsal skin on the second toe due to fibrosis and skin thickening.
***Stemmer [[Medical sign|sign]] [[Differentiate|differentiates]] [[lymphedema]] from the [[pitting edema]]; in [[lymphedema]], it is impossible to [[lift]] and [[wrinkle]] the [[dorsal]] [[skin]] on the [[second]] [[toe]] due to [[fibrosis]] and [[skin]] thickening.


{|
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===Laboratory Findings===
===Laboratory Findings===
*Low [[albumin]] level
 
*Low [[immunoglobulin]] IgM, IgA, and IgG levels
*Low [[albumin]] levels
*CBC shows [[lymphopenia]]
*Low [[immunoglobulin]] [[Immunoglobulin M|IgM]], [[Immunoglobulin A|IgA]], and [[Immunoglobulin G|IgG]] levels
*Elevated 24-hour α1-[[antitrypsin]] clearance in stool, which is an indication of the degree of protein loss and disease severity Contrast lymphangiography
*[[Complete blood count|CBC]] shows [[lymphopenia]]
*Elevated 24-hour α1-[[antitrypsin]] [[Clearance (medicine)|clearance]] in [[stool]], which is an [[Indication (medicine)|indication]] of the [[Degree (angle)|degree]] of [[protein]] loss and [[disease]] severity.


===Ultrasound===
===Ultrasound===
*Ultrasound may be helpful in the diagnosis of PIL.
 
*Findings on ultrasound suggestive of PIL include:<ref name="pmid3511270">{{cite journal| author=Dorne HL, Jequier S| title=Sonography of intestinal lymphangiectasia. | journal=J Ultrasound Med | year= 1986 | volume= 5 | issue= 1 | pages= 13-6 | pmid=3511270 | doi=10.7863/jum.1986.5.1.13 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3511270  }} </ref>
*[[Ultrasound]] may be helpful in the [[diagnosis]] of PIL.
**Dilation of the intestinal loops
*Findings on [[ultrasound]] suggestive of PIL include:<ref name="pmid3511270">{{cite journal| author=Dorne HL, Jequier S| title=Sonography of intestinal lymphangiectasia. | journal=J Ultrasound Med | year= 1986 | volume= 5 | issue= 1 | pages= 13-6 | pmid=3511270 | doi=10.7863/jum.1986.5.1.13 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3511270  }} </ref>
**Diffuse regular thickening of the intestinal wall
**[[Dilation]] of the [[intestinal]] loops
**[[Diffuse]] regular thickening of the [[intestinal wall]]
**[[Mesenteric]] [[edema]]
**[[Mesenteric]] [[edema]]
**[[Ascites]] (sometimes)
**[[Ascites]] (sometimes)


===CT scan===
===CT scan===
*Abdominal CT scan with oral and intravenous [[contrast]] medium [[enhancement]] may be helpful in the diagnosis of PIL.
 
*Findings on CT scan suggestive of PIL include:<ref name="pmid4019833">{{cite journal| author=Fakhri A, Fishman EK, Jones B, Kuhajda F, Siegelman SS| title=Primary intestinal lymphangiectasia: clinical and CT findings. | journal=J Comput Assist Tomogr | year= 1985 | volume= 9 | issue= 4 | pages= 767-70 | pmid=4019833 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4019833  }} </ref>
*[[Abdominal]] [[Computed tomography|CT scan]] with [[oral]] and [[intravenous]] [[contrast]] medium [[enhancement]] may be helpful in the [[diagnosis]] of PIL.
**Diffuse thickening of the small intestinal wall and edema
*Findings on [[CT scan]] suggestive of PIL include:<ref name="pmid4019833">{{cite journal| author=Fakhri A, Fishman EK, Jones B, Kuhajda F, Siegelman SS| title=Primary intestinal lymphangiectasia: clinical and CT findings. | journal=J Comput Assist Tomogr | year= 1985 | volume= 9 | issue= 4 | pages= 767-70 | pmid=4019833 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4019833  }} </ref>
**[[Diffuse]] thickening of the [[small intestinal]] [[Intestinal wall|wall]] and [[edema]]
**"[[Halo sign]]" (in some cases)
**"[[Halo sign]]" (in some cases)
*CT scan can also detect the localized lesions.
*[[CT scan]] can also detect the [[Localized disease|localized]] [[lesions]].


===Albumin scintigraphy===
===Albumin scintigraphy===
*99mTechnetium-labeled human serum albumin (99mTc-HSA) [[scintigraphy]] may reveal enhancement in the bowel, which indicates protein and lymph leakage into this part.
 
*[[Technetium-99m|99mTechnetium]]-[[Label|labeled]] [[human serum albumin]] ([[Technetium-99m|99mTc]]-HSA) [[scintigraphy]] may reveal enhancement in the [[bowel]], which indicates [[protein]] and [[lymph]] leakage into this part.


===Lymphangiography===
===Lymphangiography===
*[[Lymphangiography]] may be helpful in the diagnosis of PIL.
 
*Findings on lymphangiography suggestive of PIL include the abnormal dilation of the intestinal [[lymphatics]].
*CT [[lymphangiography]] (CTL) may be helpful in the [[diagnosis]] of PIL.<ref name="pmid29885759">{{cite journal| author=Dong J, Xin J, Shen W, Wen T, Chen X, Sun Y | display-authors=etal| title=CT Lymphangiography (CTL) in Primary Intestinal Lymphangiectasia (PIL): A Comparative Study with Intraoperative Enteroscopy (IOE). | journal=Acad Radiol | year= 2019 | volume= 26 | issue= 2 | pages= 275-281 | pmid=29885759 | doi=10.1016/j.acra.2018.04.023 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29885759  }} </ref>
*Findings on [[lymphangiography]] suggestive of PIL include the [[abnormal]] [[dilation]] of the [[intestinal]] [[lymphatics]].


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
*There is no definitive treatment for PIL.
 
*The mainstay of therapy is a low-fat high protein diet with medium-chain [[triglyceride]] oral supplementation and supplemental calcium and [[vitamins]].
*There is no definitive [[treatment]] for PIL.
*Other reported therapeutic options include:
*The mainstay of [[therapy]] is a low-[[fat]], high [[protein]] [[diet]] with medium-chain [[triglyceride]] [[Dietary supplement|oral supplementation]] and [[Dietary supplement|supplemental]] [[calcium]] and [[vitamins]].
**[[Tranexamic acid]] (used to increase immunoglobulins and lymphocyte count)<ref name="pmid12042562">{{cite journal| author=MacLean JE, Cohen E, Weinstein M| title=Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy. | journal=Pediatrics | year= 2002 | volume= 109 | issue= 6 | pages= 1177-80 | pmid=12042562 | doi=10.1542/peds.109.6.1177 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12042562  }}</ref>
*Other [[Reporting results|reported]] [[therapeutic]] options include:
**[[Tranexamic acid]] (used to increase [[immunoglobulins]] and [[lymphocyte]] count)<ref name="pmid12042562">{{cite journal| author=MacLean JE, Cohen E, Weinstein M| title=Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy. | journal=Pediatrics | year= 2002 | volume= 109 | issue= 6 | pages= 1177-80 | pmid=12042562 | doi=10.1542/peds.109.6.1177 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12042562  }}</ref>
**[[Steroids]]<ref name="pmid2220736">{{cite journal| author=Edworthy SM, Fritzler MJ, Kelly JK, McHattie JD, Shaffer EA| title=Protein-losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia. | journal=Am J Gastroenterol | year= 1990 | volume= 85 | issue= 10 | pages= 1398-402 | pmid=2220736 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2220736  }}</ref>
**[[Steroids]]<ref name="pmid2220736">{{cite journal| author=Edworthy SM, Fritzler MJ, Kelly JK, McHattie JD, Shaffer EA| title=Protein-losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia. | journal=Am J Gastroenterol | year= 1990 | volume= 85 | issue= 10 | pages= 1398-402 | pmid=2220736 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2220736  }}</ref>
**[[Octreotide]]<ref name="pmid12924644">{{cite journal| author=Klingenberg RD, Homann N, Ludwig D| title=Type I intestinal lymphangiectasia treated successfully with slow-release octreotide. | journal=Dig Dis Sci | year= 2003 | volume= 48 | issue= 8 | pages= 1506-9 | pmid=12924644 | doi=10.1023/a:1024707605493 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12924644  }}</ref>
**[[Octreotide]]<ref name="pmid12924644">{{cite journal| author=Klingenberg RD, Homann N, Ludwig D| title=Type I intestinal lymphangiectasia treated successfully with slow-release octreotide. | journal=Dig Dis Sci | year= 2003 | volume= 48 | issue= 8 | pages= 1506-9 | pmid=12924644 | doi=10.1023/a:1024707605493 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12924644  }}</ref>
**Albumin infusion
**[[Albumin]] [[infusion]]
***It is a symptomatic treatment to improve hypoalbuminemia and edema but its effect is transient due to continuous lymph leakage into the bowel lumen.
***It is a [[symptomatic treatment]] to improve [[hypoalbuminemia]] and [[edema]] but its [[Effect size|effect]] is [[transient]] due to continuous [[lymph]] leakage into the [[bowel]] [[lumen]].


===Surgery===
===Surgery===
*Segmental small bowel [[resection]] is only performed for localized lesions.<ref name="pmid14669360">{{cite journal| author=Chen CP, Chao Y, Li CP, Lo WC, Wu CW, Tsay SH | display-authors=etal| title=Surgical resection of duodenal lymphangiectasia: a case report. | journal=World J Gastroenterol | year= 2003 | volume= 9 | issue= 12 | pages= 2880-2 | pmid=14669360 | doi=10.3748/wjg.v9.i12.2880 | pmc=4612079 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14669360  }}</ref>
 
*[[Segmental analysis (biology)|Segmental]] [[small bowel]] [[resection]] is only performed for [[Localized disease|localized]] [[lesions]].<ref name="pmid14669360">{{cite journal| author=Chen CP, Chao Y, Li CP, Lo WC, Wu CW, Tsay SH | display-authors=etal| title=Surgical resection of duodenal lymphangiectasia: a case report. | journal=World J Gastroenterol | year= 2003 | volume= 9 | issue= 12 | pages= 2880-2 | pmid=14669360 | doi=10.3748/wjg.v9.i12.2880 | pmc=4612079 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14669360  }}</ref>


===Prevention===
===Prevention===
*There are no primary preventive measures available for PIL.
 
*There are no [[Primary prevention|primary preventive]] [[Measure (mathematics)|measures]] available for PIL.


==References==
==References==
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[[Category:Lymphatic disease]]
[[Category:Lymphatic disease]]
 
[[Category:Rare disease]]
{{WS}}
[[Category:Gastroenterology]]
{{WH}}
[[Category:Up-to-date]]

Latest revision as of 20:01, 28 April 2021

Primary Intestinal Lymphangiectasia Microchapters

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating PIL from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Treatment

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Associate Editor(s)-in-Chief: Mohamed Riad, M.D.[3]

Synonyms and keywords: PIL, Waldmann disease, Waldmann's disease

Overview

Primary intestinal lymphangiectasia (Waldmann's disease) was first discovered by Waldmann T.A. in 1961, when he reported 18 cases of patients having edema with low serum albumin, gammaglobulin, and protein levels and he called it ''idiopathic hypercatabolic hypoproteinemia". PIL develops as a result of enlargement or dilatation of intestinal lymphatic vessels (lacteals) with leakage of their contents into the bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia, and lymphopenia. The cause of PIL has not yet been identified. The prevalence of PIL is unknown. It can be asymptomatic. It primarily affects children (generally diagnosed before the age of 3) and young adults but may be diagnosed later in adults. Symptoms include pitting edema, diarrhea, fatigue, abdominal discomfort, and malabsorption syndrome. PIL is diagnosed by biopsy revealing dilated intestinal lymphatics. Video-capsule endoscopy may be helpful when endoscopic findings are not conclusive. Common complications of PIL include infections, malignant transformation (lymphoma), and skin warts. There is no definitive treatment for PIL; the mainstay of therapy is a low-fat, high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins. PIL is associated with significant morbidity and requires adherence to dietary modification and oral supplements; otherwise. it would be associated with poor outcomes and low quality of life. It can be fatal in some cases if anasarca or malignancy develops.

Historical Perspective

Pathophysiology

Pathology

Genetics

Associated conditions

Gross pathology

Microscopic Pathology

Causes

Differentiating PIL from other Diseases

Disease Clinical manifestations Diagnostic studies
Intestinal Tuberculosis[6]
Inflammatory bowel disease[7]
Intestinal lymphoma[8]
Constrictive pericarditis[9]
Sarcoidosis[10]
Systemic sclerosis[11]
Whipple disease[12]
Radiation and/or chemotherapy with retroperitoneal fibrosis[13]
HIV-related enteropathy[14]
Menetrier's disease
Inflammatory states of systemic lupus erythematosus

Epidemiology and Demographics

Age

Race

  • There is no racial predilection for PIL.

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

Biopsy

Video-capsule endoscopy

History and Symptoms

A 23-year-old woman with PIL since infancy. Note the bilateral lower limb lymphedema, with accentuation of the dorsal flexion folds of the toes. [1]

Laboratory Findings

Ultrasound

CT scan

Albumin scintigraphy

Lymphangiography

Treatment

Medical Therapy

Surgery

Prevention

References

  1. Vignes S, Bellanger J (2008). "Primary intestinal lymphangiectasia (Waldmann's disease)". Orphanet J Rare Dis. 3: 5. doi:10.1186/1750-1172-3-5. PMC 2288596. PMID 18294365.
  2. WALDMANN TA, STEINFELD JL, DUTCHER TF, DAVIDSON JD, GORDON RS (1961). "The role of the gastrointestinal system in "idiopathic hypoproteinemia"". Gastroenterology. 41: 197–207. PMID 13782654.
  3. 3.0 3.1 Samman, Peter D.; White, William F. (1964). "THE "YELLOW NAIL" SYNDROME". British Journal of Dermatology. 76 (4): 153–157. doi:10.1111/j.1365-2133.1964.tb14499.x. ISSN 0007-0963.
  4. 4.0 4.1 Hokari R, Kitagawa N, Watanabe C, Komoto S, Kurihara C, Okada Y; et al. (2008). "Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss". J Gastroenterol Hepatol. 23 (7 Pt 2): e88–95. doi:10.1111/j.1440-1746.2007.05225.x. PMID 18005011.
  5. 5.0 5.1 Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA; et al. (1989). "Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation". Am J Med Genet. 34 (4): 593–600. doi:10.1002/ajmg.1320340429. PMID 2624276.
  6. Ploddi A, Atisook K, Hargrove NS (1988). "Intestinal lymphangiectasia in intraabdominal tuberculosis". J Med Assoc Thai. 71 (9): 518–23. PMID 3249186.
  7. STEINFELD JL, DAVIDSON JD, GORDON RS, GREENE FE (1960). "The mechanism of hypoproteinemia in patients with regional enteritis and ulcerative colitis". Am J Med. 29: 405–15. doi:10.1016/0002-9343(60)90036-x. PMID 13834226.
  8. SUM PT, HOFFMAN MM, WEBSTER DR (1964). "PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER". Can J Surg. 7: 1–5. PMID 14103417.
  9. Wilkinson P, Pinto B, Senior JR (1965). "Reversible protein-losing enteropathy with intestinal lymphangiectasia secondary to chronic constrictive pericarditis". N Engl J Med. 273 (22): 1178–81. doi:10.1056/NEJM196511252732202. PMID 5847556.
  10. Popović OS, Brkić S, Bojić P, Kenić V, Jojić N, Djurić V; et al. (1980). "Sarcoidosis and protein losing enteropathy". Gastroenterology. 78 (1): 119–25. PMID 7350018.
  11. van Tilburg AJ, van Blankenstein M, Verschoor L (1988). "Intestinal lymphangiectasia in systemic sclerosis". Am J Gastroenterol. 83 (12): 1418–9. PMID 3195550.
  12. Laster L, Waldmann TA, Fenster LF, Singleton JW (1966). "Albumin metabolism in patients with Whipple's disease". J Clin Invest. 45 (5): 637–44. doi:10.1172/JCI105379. PMC 292741. PMID 4160668.
  13. Rao SS, Dundas S, Holdsworth CD (1987). "Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy". Dig Dis Sci. 32 (8): 939–42. doi:10.1007/BF01296718. PMID 3608736.
  14. Stockmann M, Fromm M, Schmitz H, Schmidt W, Riecken EO, Schulzke JD (1998). "Duodenal biopsies of HIV-infected patients with diarrhoea exhibit epithelial barrier defects but no active secretion". AIDS. 12 (1): 43–51. doi:10.1097/00002030-199801000-00006. PMID 9456254.
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