Hemochromatosis differential diagnosis: Difference between revisions

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{{Hemochromatosis}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Hemochromatosis]]
{{CMG}}; {{AE}}{{MJ}}
{{CMG}}; {{AE}}{{MJ}}


==Overview==
==Overview==
Haemochromatosis is notoriously protean, ''i.e.'', it presents with symptoms that are often initially attributed to other diseases.  It is also true that most people with hereditary hemochromatosis genetics never actually show signs or suffer symptoms of clinical iron overload(''i.e.,'' is clinically silent).<ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis-Diagnosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref>
Haemochromatosis should be differentiate from other disorders with [[iron]] overload. Iron overload can be sue to [[iron]] absorption, or [[iron]] overload. Diseases in this category are: hemochromatosis, [[Thalassemia]], [[chronic liver disease]], [[sideroblastic anemia]], [[african iron overload]], and transfusion iron overload.  


==Differentiating Hemochromatosis from other Diseases==
==Differentiating Hemochromatosis from other Diseases==
Haemochromatosis should be differentiate from other disorders with [[iron]] overload. Iron overload can be sue to [[iron]] absorption, or [[iron]] overload. Diseases in this category are: hemochromatosis, [[Thalassemia]], [[chronic liver disease]], [[sideroblastic anemia]], [[african iron overload]], and transfusion iron overload.


{| class="wikitable"
{| class="wikitable" align="center" style="border: 0px; font-size: 90%; margin: 3px;"
|+Different causes of iron overload
|+Different causes of iron overload
!Category
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Category
! colspan="2" |Disorder
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder
!
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Etiology
!
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory abnormalities
!Mechanism
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Physical examination
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Mechanism
|-
|-
| rowspan="6" |Increased Iron absorption
| rowspan="5" align="center" style="padding: 5px 5px; background: #DCDCDC;" |'''Increased Iron absorption'''
| colspan="2" |Hemochromatosis
|'''Hemochromatosis'''<ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis-Diagnosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref><ref name="pmid234187622">{{cite journal| author=Crownover BK, Covey CJ| title=Hereditary hemochromatosis. | journal=Am Fam Physician | year= 2013 | volume= 87 | issue= 3 | pages= 183-90 | pmid=23418762 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23418762  }}</ref><ref name="Nielsen_1995">{{cite journal |author=Nielsen J, Jensen L, Krabbe K |title=Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome |journal=J Neurol Neurosurg Psychiatry |volume=59 |issue=3 |pages=318-21 |year=1995 |pmid=7673967}}</ref><ref name="Costello_2004">{{cite journal |author=Costello D, Walsh S, Harrington H, Walsh C |title=Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series |journal=J Neurol Neurosurg Psychiatry |volume=75 |issue=4 |pages=631-3 |year=2004 |pmid=15026513}}</ref><ref name="pmid25454304">{{cite journal| author=Salgia RJ, Brown K| title=Diagnosis and management of hereditary hemochromatosis. | journal=Clin Liver Dis | year= 2015 | volume= 19 | issue= 1 | pages= 187-98 | pmid=25454304 | doi=10.1016/j.cld.2014.09.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25454304  }}</ref>
|
|
* Mutated [[HFE (gene)|HFE gene]]
|
|
* Increased [[ferritin]] levels
* Decreased [[total iron-binding capacity]]
* High serum Iron
* High [[transferrin saturation]]
* High Hepatic iron concentration μg/g dry weight
* Perls' Prussian blue stain positive for Iron
* High Hepatic iron index
|
|
* Genetic mutations that affects iron absorption
*[[Fatigue]]
*Weakness
*Weight loss
*[[Abdominal pain]]
*[[Joint pain]]
*Congestive [[heart failure]], [[arrhythmia]]s or [[pericarditis]]
*[[Deafness]]
*Dysfunction of certain [[endocrine organs]]:
**[[Pancreas|Pancreatic gland]], as above, manifesting as [[diabetes]]
**[[Adrenal gland]] (leading to [[adrenal insufficiency]])
**[[Parathyroid gland]] (leading to [[hypocalcaemia]])
**[[Pituitary gland]]
**[[Testes]] or [[ovary]] (leading to [[hypogonadism]])
*A darkish color to the skin (see pigmentation, hence its name '''''Diabete bronze''''' )
*
|
* [[Genetic mutations]] that affects [[iron]] absorption
|-
|-
| colspan="2" |Thalassemia  
|'''[[Thalassemia]]<ref name="pmid23028133">{{cite journal| author=Gibbons RJ| title=α-Thalassemia, mental retardation, and myelodysplastic syndrome. | journal=Cold Spring Harb Perspect Med | year= 2012 | volume= 2 | issue= 10 | pages=  | pmid=23028133 | doi=10.1101/cshperspect.a011759 | pmc=3475406 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23028133  }}</ref>'''
|
*[[Genetic defect]] with alpha- or [[beta-globin]] production
*Absence of alpha or beta-globin chains
|
|
*Abnormal [[hemoglobin]] [[electrophoresis]]
*Abnormal [[high performance liquid chromatography]]<ref name="pmid16461765">{{cite journal| author=Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH| title=Screening and counseling for thalassemia. | journal=Blood | year= 2006 | volume= 107 | issue= 4 | pages= 1735-7 | pmid=16461765 | doi=10.1182/blood-2005-09-3557 | pmc=1895412 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16461765  }}</ref>
*Elevated ferritin (due to frequent transfusions and iron overload)
*Microcytic hypochromic anemia
|
|
*[[Irritability]]
*[[Growth retardation]]
*[[Jaundice]]
*[[Hepatomegaly]]
*[[Splenomegaly]]
|
|
* Ineffective erythropoiesis leading to suppression of hepcidin
* Ineffective [[erythropoiesis]] leading to suppression of [[hepcidin]]
* Transfusional iron overload may also contribute
* Transfusional [[iron]] overload may also contribute
|-
|-
| rowspan="3" |Chronic liver disease
|'''[[Chronic liver disease]]<ref name="pmid25548474">{{cite journal |vauthors=Ceni E, Mello T, Galli A |title=Pathogenesis of alcoholic liver disease: role of oxidative metabolism |journal=World J. Gastroenterol. |volume=20 |issue=47 |pages=17756–72 |year=2014 |pmid=25548474 |pmc=4273126 |doi=10.3748/wjg.v20.i47.17756 |url=}}</ref><ref name="pmid25920088">{{cite journal |vauthors=Mathurin P, Bataller R |title=Trends in the management and burden of alcoholic liver disease |journal=J. Hepatol. |volume=62 |issue=1 Suppl |pages=S38–46 |year=2015 |pmid=25920088 |pmc=5013530 |doi=10.1016/j.jhep.2015.03.006 |url=}}</ref><ref name="pmid19553649">{{cite journal |vauthors=Lucey MR, Mathurin P, Morgan TR |title=Alcoholic hepatitis |journal=N. Engl. J. Med. |volume=360 |issue=26 |pages=2758–69 |year=2009 |pmid=19553649 |doi=10.1056/NEJMra0805786 |url=}}</ref><ref name="pmid27834478">{{cite journal |vauthors=Datz C, Müller E, Aigner E |title=Iron overload and non-alcoholic fatty liver disease |journal=Minerva Endocrinol. |volume=42 |issue=2 |pages=173–183 |date=June 2017 |pmid=27834478 |doi=10.23736/S0391-1977.16.02565-7 |url=}}</ref>'''
|Alcoholic liver disease
|
|
* [[Alcoholic liver disease]]
* [[Chronic hepatitis]]
* [[Non-alcoholic fatty liver disease|Non-alcoholic fatty liver disease (NAFLD)]]
|
|
| rowspan="3" |
* Impaired [[liver]] function tests with hepatocellular pattern
* Reduced hepcidin production
* High [[ferritin]]
|-
|Chronic hepatitis
|
|
* [[Jaundice]]
* [[Gynecomastia]]
* [[Spider angiomata]]
* [[Bruising]]
* [[Hepatosplenomegaly]]
* [[Ascites]]
* [[Testicular atrophy]]
* [[Asterixis]]
* [[Palmar erythema]]
|
|
* Reduced [[hepcidin]] production
|-
|-
|Non-alcoholic fatty liver disease (NAFLD)
|'''[[Sideroblastic anemia]]<ref name="pmid21632840">{{cite journal |vauthors=Cazzola M, Invernizzi R |title=Ring sideroblasts and sideroblastic anemias |journal=Haematologica |volume=96 |issue=6 |pages=789–92 |date=June 2011 |pmid=21632840 |pmc=3105636 |doi=10.3324/haematol.2011.044628 |url=}}</ref><ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref><ref name="pmid29787825">{{cite journal |vauthors=Long Z, Li H, Du Y, Han B |title=Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology |journal=Gene |volume=668 |issue= |pages=182–189 |date=August 2018 |pmid=29787825 |doi=10.1016/j.gene.2018.05.074 |url=}}</ref>'''
|
|
* [[Alcoholism]]
* [[Chloramphenicol]]
* [[Isoniazid]]
* [[Copper deficiency]] (nutritional, [[zinc]]-induced, copper chelation)
* Vit B-6 deficiency
* X-linked sideroblastic anemia
|
|
|-
* Microcytic hypochromic [[anemia]]
| colspan="2" |Sideroblastic anemia
* Normal to low reticulocyte count
* Increased [[ferritin]] levels
* Decreased [[total iron-binding capacity]]
* [[Hematocrit]], 20-30%
* High serum Iron
* High [[transferrin saturation]]
* Basophilic stippling of red blood cells on peripheral blood smear in [[lead poisoning]]
* Prussian Blue stain of RBC in marrow, shows ringed sideroblasts
|
|
*[[Seborrheic dermatitis]]
*Glossy Tongue
*[[Tingling]]
* Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms
|
|
|
* Ineffective [[erythropoiesis]] leading to suppression of [[hepcidin]]
* Ineffective erythropoiesis leading to suppression of hepcidin
* Increased [[iron]] recycling from the [[bone marrow]] and accumulation in the liver.
* Increased iron recycling from the [[bone marrow]] and accumulation in the liver.
|-
|-
| rowspan="3" |Increased Iron intake
|'''[[African iron overload]]<ref name="pmid12382201">{{cite journal |vauthors=Gordeuk VR |title=African iron overload |journal=Semin. Hematol. |volume=39 |issue=4 |pages=263–9 |date=October 2002 |pmid=12382201 |doi= |url=}}</ref><ref name="Gordeuk_2003">{{cite journal |author=Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A |title=Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene |journal=Blood Cells Mol Dis |volume=31 |issue=3 |pages=299-304 |year=2003 |pmid=14636642}}</ref>'''
| colspan="2" |Transfusional overload
|
|
* Gene [[polymorphism (biology)|polymorphism]] in the gene for [[ferroportin]] which predisposes some people of African descent to iron overload
|
|
* Increased [[ferritin]] levels
* Decreased [[total iron-binding capacity]]
* High serum Iron
* High [[transferrin saturation]]
|Insert paragraph
* [[Fatigue]]
* Weakness
* Weight loss
* [[Abdominal pain]]
* [[Joint pain]]
* Congestive [[heart failure]]
* Dysfunction of certain [[endocrine organs]]
|Increase [[iron]] absorption from intestine
|-
| rowspan="2" align="center" style="padding: 5px 5px; background: #DCDCDC;" |'''Increased Iron intake'''
|[[Transfusional iron overload|'''Transfusional overload''']]
|
|
|-
* Recurrent blood transfusion for any reason
| colspan="2" |Hemin infusion
* Treat acute intermittent porphyria
|
|
* Increased [[ferritin]] levels
* Decreased [[total iron-binding capacity]]
* High serum Iron
* High [[transferrin saturation]]
|
|
*[[Fatigue]]
*Weakness
*Weight loss
*[[Abdominal pain]]
*[[Joint pain]]
*Congestive [[heart failure]]
*Dysfunction of certain [[endocrine organs]]
|
|
* Extra [[iron]] infusion
|-
|-
| colspan="2" |African iron overload
|'''[[Hemin]] infusion'''
* Treat [[acute intermittent porphyria]]
|
|
* [[Hemin]] infusion
|
|
* Increased [[ferritin]] levels
* Decreased [[total iron-binding capacity]]
* High serum Iron
* High [[transferrin saturation]]
|
|
*[[Fatigue]]
*Weakness
*Weight loss
*[[Abdominal pain]]
*[[Joint pain]]
*Congestive [[heart failure]]
*Dysfunction of certain [[endocrine organs]]
|
* Extra [[iron]] infusion
|}
|}
There exist other causes of excess iron accumulation, which have to be considered before Haemochromatosis is diagnosed.
* '''[[African iron overload]]''', formerly known as Bantu siderosis, was first observed among people of African descent in Southern Africa. Originally, this was blamed on ungalvanised barrels used to store home-made beer, which led to increased oxidation and increased iron levels in the beer. Further investigation has shown that only some people drinking this sort of beer get an iron overload syndrome, and that a similar syndrome occurred in people of African descent who have had no contact with this kind of beer (''e.g.,'' African Americans). This led investigators to the discovery of a gene [[polymorphism (biology)|polymorphism]] in the gene for [[ferroportin]] which predisposes some people of African descent to iron overload.<ref name="Gordeuk_2003">{{cite journal |author=Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A |title=Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene |journal=Blood Cells Mol Dis |volume=31 |issue=3 |pages=299-304 |year=2003 |pmid=14636642}}</ref>
* '''[[Transfusion hemosiderosis]]''' is the accumulation of iron, mainly in the [[liver]], in patients who receive frequent [[blood transfusion]]s (such as those with [[thalassemia]]).
* '''Dyserythropoeisis''', also known as [[myelodysplastic syndrome]] is a disorder in the production of red blood cells. This leads to increased iron recycling from the [[bone marrow]] and accumulation in the liver.
Early signs may mimic other diseases. Stiff joints, diabetes, and fatigue, for example, are common in haemochromatosis and other maladies.


==References==
==References==

Latest revision as of 22:10, 8 February 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Haemochromatosis should be differentiate from other disorders with iron overload. Iron overload can be sue to iron absorption, or iron overload. Diseases in this category are: hemochromatosis, Thalassemia, chronic liver disease, sideroblastic anemia, african iron overload, and transfusion iron overload.

Differentiating Hemochromatosis from other Diseases

Haemochromatosis should be differentiate from other disorders with iron overload. Iron overload can be sue to iron absorption, or iron overload. Diseases in this category are: hemochromatosis, Thalassemia, chronic liver disease, sideroblastic anemia, african iron overload, and transfusion iron overload.

Different causes of iron overload
Category Disorder Etiology Laboratory abnormalities Physical examination Mechanism
Increased Iron absorption Hemochromatosis[1][2][3][4][5]
Thalassemia[6]
Chronic liver disease[8][9][10][11]
  • Impaired liver function tests with hepatocellular pattern
  • High ferritin
Sideroblastic anemia[12][13][14]
African iron overload[15][16] Insert paragraph Increase iron absorption from intestine
Increased Iron intake Transfusional overload
  • Recurrent blood transfusion for any reason
Hemin infusion

References

  1. ↑ Hemochromatosis-Diagnosis National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services
  2. ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
  3. ↑ Nielsen J, Jensen L, Krabbe K (1995). "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome". J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.
  4. ↑ Costello D, Walsh S, Harrington H, Walsh C (2004). "Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series". J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.
  5. ↑ Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.
  6. ↑ Gibbons RJ (2012). "α-Thalassemia, mental retardation, and myelodysplastic syndrome". Cold Spring Harb Perspect Med. 2 (10). doi:10.1101/cshperspect.a011759. PMC 3475406. PMID 23028133.
  7. ↑ Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH (2006). "Screening and counseling for thalassemia". Blood. 107 (4): 1735–7. doi:10.1182/blood-2005-09-3557. PMC 1895412. PMID 16461765.
  8. ↑ Ceni E, Mello T, Galli A (2014). "Pathogenesis of alcoholic liver disease: role of oxidative metabolism". World J. Gastroenterol. 20 (47): 17756–72. doi:10.3748/wjg.v20.i47.17756. PMC 4273126. PMID 25548474.
  9. ↑ Mathurin P, Bataller R (2015). "Trends in the management and burden of alcoholic liver disease". J. Hepatol. 62 (1 Suppl): S38–46. doi:10.1016/j.jhep.2015.03.006. PMC 5013530. PMID 25920088.
  10. ↑ Lucey MR, Mathurin P, Morgan TR (2009). "Alcoholic hepatitis". N. Engl. J. Med. 360 (26): 2758–69. doi:10.1056/NEJMra0805786. PMID 19553649.
  11. ↑ Datz C, Müller E, Aigner E (June 2017). "Iron overload and non-alcoholic fatty liver disease". Minerva Endocrinol. 42 (2): 173–183. doi:10.23736/S0391-1977.16.02565-7. PMID 27834478.
  12. ↑ Cazzola M, Invernizzi R (June 2011). "Ring sideroblasts and sideroblastic anemias". Haematologica. 96 (6): 789–92. doi:10.3324/haematol.2011.044628. PMC 3105636. PMID 21632840.
  13. ↑ Bottomley SS, Fleming MD (August 2014). "Sideroblastic anemia: diagnosis and management". Hematol. Oncol. Clin. North Am. 28 (4): 653–70, v. doi:10.1016/j.hoc.2014.04.008. PMID 25064706.
  14. ↑ Long Z, Li H, Du Y, Han B (August 2018). "Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology". Gene. 668: 182–189. doi:10.1016/j.gene.2018.05.074. PMID 29787825.
  15. ↑ Gordeuk VR (October 2002). "African iron overload". Semin. Hematol. 39 (4): 263–9. PMID 12382201.
  16. ↑ Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A (2003). "Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene". Blood Cells Mol Dis. 31 (3): 299–304. PMID 14636642.

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