Hereditary spherocytosis differential diagnosis: Difference between revisions
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==Overview== | ==Overview== | ||
Hereditary spherocytosis usually presents with hemolysis, therefore should be differentiated from other diseases including; autoimmune hemolysis, thermal injury, clostridial septicemia, wilson disease, hemoglobinopathies, hereditary stomatocytosis, congenital dyserythropoietic anemia type II, infantile | [[Hereditary spherocytosis]] usually presents with [[hemolysis]], therefore should be [[Differentiate|differentiated]] from other [[Disease|diseases]] including; [[Autoimmune hemolytic anemia|autoimmune hemolysis]], thermal [[injury]], [[Clostridia|clostridial]] [[Sepsis|septicemia]], [[Wilson's disease|wilson disease]], [[Hemoglobinopathy|hemoglobinopathies]], [[hereditary stomatocytosis]], [[Congenital dyserythropoietic anemia|congenital dyserythropoietic anemia type II]], [[Infant|infantile]] [[Pyknosis|pyknocytosis]] and [[Hemolytic disease of the newborn|hemolytic disease of fetus and newborn (HDFN)]]. | ||
==Differential diagnosis== | ==Differential diagnosis== | ||
* Hereditary spherocytosis presents with hemolysis, therefore should be differentiated from following diseases.<ref>{{Cite journal | * [[Hereditary spherocytosis]] presents with [[hemolysis]], therefore should be [[Differentiate|differentiated]] from following [[Disease|diseases]].<ref>{{Cite journal | ||
| author = [[Robert D. Christensen]], [[Hassan M. Yaish]] & [[Patrick G. Gallagher]] | | author = [[Robert D. Christensen]], [[Hassan M. Yaish]] & [[Patrick G. Gallagher]] | ||
| title = A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates | | title = A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates | ||
| Line 21: | Line 21: | ||
| pmid = 26009624 | | pmid = 26009624 | ||
}}</ref><ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref> | }}</ref><ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref> | ||
** Autoimmune hemolysis | ** [[Autoimmune hemolytic anemia|Autoimmune hemolysis]] | ||
*** Autoimmune hemolytic anemia (AIHA), in which autoantibodies directed against self-RBC antigens lead to hemolysis, is a common cause of hemolysis and/or anemia, especially in adults. | *** [[Autoimmune hemolytic anemia|Autoimmune hemolytic anemia (AIHA)]], in which [[Autoantibody|autoantibodies]] directed against self-[[Red blood cell|RBC]] [[Antigen|antigens]] lead to [[hemolysis]], is a [[Causality|common cause]] of [[hemolysis]] and/or [[anemia]], especially in [[Adult|adults]]. | ||
*** Warm AIHA associated with an underlying disorder such as systemic lupus erythematosus (SLE) or without an underlying disorder is more common than cold AIHA, which is typically triggered by an infection such as infectious mononucleosis. | *** [[Warm autoimmune hemolytic anemia|Warm AIHA]] associated with an underlying [[Disorder (medicine)|disorder]] such as [[Systemic lupus erythematosus|systemic lupus erythematosus (SLE)]] or without an underlying [[Disorder (medicine)|disorder]] is more common than [[Cold agglutinin disease|cold AIHA]], which is typically [[Trigger|triggered]] by an [[infection]] such as [[Mononucleosis|infectious mononucleosis]]. | ||
*** Like hereditary spherocytosis, patients can have anemia and/or hemolysis of variable severity and abundant spherocytes on the peripheral blood smear. | *** Like [[hereditary spherocytosis]], [[Patient|patients]] can have [[anemia]] and/or [[hemolysis]] of [[variable]] severity and abundant [[Spherocytosis|spherocytes]] on the [[Blood film|peripheral blood smear]]. | ||
*** Unlike hereditary spherocytosis, in AIHA, the | *** Unlike [[hereditary spherocytosis]], in [[Autoimmune hemolytic anemia|AIHA]], the [[coombs test]] is typically positive, there is not [[family history]] of [[hemolytic anemia]], and prior [[Complete blood count|complete blood counts (CBCs)]] will show a normal [[Hemoglobin|hemoglobin level]] and [[Reticulocyte|reticulocyte count]]. | ||
** Thermal injury | ** Thermal [[injury]] | ||
** Clostridial septicemia | ** [[Clostridia|Clostridial]] [[Sepsis|septicemia]] | ||
** Wilson disease | ** [[Wilson's disease|Wilson disease]] | ||
** Hemoglobinopathies | ** [[Hemoglobinopathy|Hemoglobinopathies]] | ||
** Hereditary stomatocytosis | ** [[Hereditary stomatocytosis]] | ||
** Congenital | ** [[Congenital dyserythropoietic anemia|Congenital dyserythropoietic anemia type II]] | ||
*** CDA type II is a group of inherited anemias caused by one of several gene variants that results in abnormal RBC production in the bone marrow. | *** [[Congenital dyserythropoietic anemia|CDA type II]] is a group of [[inherited]] [[Anemia|anemias]] [[Causality|caused]] by one of several [[gene]] variants that [[Result|results]] in abnormal [[Red blood cell|RBC]] production in the [[bone marrow]]. | ||
*** Like hereditary spherocytosis, some individuals may have significant hemolysis and/or splenomegaly, and some specialized tests such as EMA binding may be positive. | *** Like [[hereditary spherocytosis]], some individuals may have significant [[hemolysis]] and/or [[splenomegaly]], and some specialized [[Test|tests]] such as EMA binding may be positive. | ||
*** Unlike hereditary spherocytosis, individuals with one of the CDAs are likely to have characteristic morphology of RBC precursors in the bone marrow, and the reticulocyte count is usually lower in the CDAs.<ref name="pmid22055020">{{cite journal| author=Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology| title=Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. | journal=Br J Haematol | year= 2012 | volume= 156 | issue= 1 | pages= 37-49 | pmid=22055020 | doi=10.1111/j.1365-2141.2011.08921.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22055020 }}</ref> | *** Unlike [[hereditary spherocytosis]], individuals with one of the [[Congenital dyserythropoietic anemia|CDAs]] are likely to have characteristic [[morphology]] of [[Red blood cell|RBC]] [[Precursor|precursors]] in the [[bone marrow]], and the [[Reticulocyte|reticulocyte count]] is usually lower in the [[Congenital dyserythropoietic anemia|CDAs]].<ref name="pmid22055020">{{cite journal| author=Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology| title=Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. | journal=Br J Haematol | year= 2012 | volume= 156 | issue= 1 | pages= 37-49 | pmid=22055020 | doi=10.1111/j.1365-2141.2011.08921.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22055020 }}</ref> | ||
** Infantile pyknocytosis | ** [[Infant|Infantile]] [[Pyknosis|pyknocytosis]] | ||
*** It is a disorder of unknown etiology in which RBCs become hyperdense and dehydrated.<ref name="pmid26273436">{{cite journal| author=El Nabouch M, Rakotoharinandrasana I, Ndayikeza A, Picard V, Kayemba-Kay's S| title=Infantile pyknocytosis, a rare cause of hemolytic anemia in newborns: report of two cases in twin girls and literature overview. | journal=Clin Case Rep | year= 2015 | volume= 3 | issue= 7 | pages= 535-8 | pmid=26273436 | doi=10.1002/ccr3.288 | pmc=4527790 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26273436 }}</ref> | *** It is a [[Disorder (medicine)|disorder]] of unknown [[etiology]] in which [[Red blood cell|RBCs]] become hyperdense and [[Dehydration|dehydrated]].<ref name="pmid26273436">{{cite journal| author=El Nabouch M, Rakotoharinandrasana I, Ndayikeza A, Picard V, Kayemba-Kay's S| title=Infantile pyknocytosis, a rare cause of hemolytic anemia in newborns: report of two cases in twin girls and literature overview. | journal=Clin Case Rep | year= 2015 | volume= 3 | issue= 7 | pages= 535-8 | pmid=26273436 | doi=10.1002/ccr3.288 | pmc=4527790 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26273436 }}</ref> | ||
*** Like hereditary spherocytosis, this condition presents in neonates with anemia and an increased mean corpuscular hemoglobin concentration (MCHC), but unlike hereditary spherocytosis, the RBCs have irregular borders and varying numbers of projections, and the condition resolves spontaneously during the first year of life without intervention. | *** Like [[hereditary spherocytosis]], this condition presents in [[Infant|neonates]] with [[anemia]] and an increased [[Mean corpuscular hemoglobin concentration|mean corpuscular hemoglobin concentration (MCHC)]], but unlike [[hereditary spherocytosis]], the [[Red blood cell|RBCs]] have irregular borders and varying numbers of [[Projection fibers|projections]], and the [[Disease|condition]] resolves spontaneously during the first year of [[life]] without [[Intervention (counseling)|intervention]]. | ||
** Other inherited hemolytic anemias | ** Other [[inherited]] [[Hemolytic anemia|hemolytic anemias]] | ||
*** Other inherited RBC membrane disorders include hereditary elliptocytosis (HE) and elliptocytosis variants (eg, Southeast Asian ovalocytosis | *** Other [[inherited]] [[Red blood cell|RBC]] [[Cell membrane|membrane]] [[Disorder (medicine)|disorders]] include [[Hereditary elliptocytosis|hereditary elliptocytosis (HE)]] and [[Hereditary elliptocytosis|elliptocytosis]] variants (eg, Southeast Asian [[ovalocytosis]] (SAO), [[Hereditary pyropoikilocytosis|hereditary pyropoikilocytosis (HPP)]], [[Hereditary stomatocytosis|hereditary stomatocytosis (HSt)]], and [[Heredity|hereditary]] xerocytosis (HX). | ||
*** RBC enzyme disorders include glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate kinase (PK) deficiency, and other | *** [[Red blood cell|RBC]] [[enzyme]] [[Disorder (medicine)|disorders]] include [[Glucose-6-phosphate dehydrogenase deficiency (patient information)|glucose-6-phosphate dehydrogenase (G6PD) deficiency]], [[Pyruvate kinase deficiency|pyruvate kinase (PK) deficiency]], and other [[rare]] [[Metabolic disorder|metabolic disorders]]. | ||
*** Like hereditary spherocytosis, these present with variable degrees of anemia and hemolysis and can be diagnosed at any age. | *** Like [[hereditary spherocytosis]], these present with variable degrees of [[anemia]] and [[hemolysis]] and can be [[Diagnosis|diagnosed]] at any [[Ageing|age]]. | ||
*** Unlike the other disorders, G6PD deficiency typically presents with more discreet episodes of hemolysis after exposure to oxidant drugs. | *** Unlike the other [[Disorder (medicine)|disorders]], [[Glucose-6-phosphate dehydrogenase deficiency|G6PD deficiency]] typically presents with more discreet episodes of [[hemolysis]] after [[Exposure therapy|exposure]] to [[Oxidant|oxidant drugs]]. | ||
*** Unlike the other membrane disorders, which each have distinctive morphologies on the blood smear, and the enzyme disorders, which typically have nonspecific findings (eg, mild reticulocytosis), hereditary spherocytosis is characterized by spherocytosis as the predominant morphology. | *** Unlike the other [[membrane]] [[Disorder (medicine)|disorders]], which each have distinctive morphologies on the blood smear, and the enzyme disorders, which typically have nonspecific findings (eg, mild reticulocytosis), hereditary spherocytosis is characterized by spherocytosis as the predominant morphology. | ||
**Hemolytic disease of the fetus and newborn (HDFN) | **Hemolytic disease of the fetus and newborn (HDFN) | ||
*** Neonates may present with severe HDFN (also called neonatal alloimmune hemolytic anemia), which is caused by maternal antibodies crossing the placenta and recognize foreign fetal RBC antigens, leading to alloimmune hemolysis. | *** Neonates may present with severe HDFN (also called neonatal alloimmune hemolytic anemia), which is caused by maternal antibodies crossing the placenta and recognize foreign fetal RBC antigens, leading to alloimmune hemolysis. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hereditary spherocytosis usually presents with hemolysis, therefore should be differentiated from other diseases including; autoimmune hemolysis, thermal injury, clostridial septicemia, wilson disease, hemoglobinopathies, hereditary stomatocytosis, congenital dyserythropoietic anemia type II, infantile pyknocytosis and hemolytic disease of fetus and newborn (HDFN).
Differential diagnosis
- Hereditary spherocytosis presents with hemolysis, therefore should be differentiated from following diseases.[1][2]
- Autoimmune hemolysis
- Autoimmune hemolytic anemia (AIHA), in which autoantibodies directed against self-RBC antigens lead to hemolysis, is a common cause of hemolysis and/or anemia, especially in adults.
- Warm AIHA associated with an underlying disorder such as systemic lupus erythematosus (SLE) or without an underlying disorder is more common than cold AIHA, which is typically triggered by an infection such as infectious mononucleosis.
- Like hereditary spherocytosis, patients can have anemia and/or hemolysis of variable severity and abundant spherocytes on the peripheral blood smear.
- Unlike hereditary spherocytosis, in AIHA, the coombs test is typically positive, there is not family history of hemolytic anemia, and prior complete blood counts (CBCs) will show a normal hemoglobin level and reticulocyte count.
- Thermal injury
- Clostridial septicemia
- Wilson disease
- Hemoglobinopathies
- Hereditary stomatocytosis
- Congenital dyserythropoietic anemia type II
- CDA type II is a group of inherited anemias caused by one of several gene variants that results in abnormal RBC production in the bone marrow.
- Like hereditary spherocytosis, some individuals may have significant hemolysis and/or splenomegaly, and some specialized tests such as EMA binding may be positive.
- Unlike hereditary spherocytosis, individuals with one of the CDAs are likely to have characteristic morphology of RBC precursors in the bone marrow, and the reticulocyte count is usually lower in the CDAs.[3]
- Infantile pyknocytosis
- It is a disorder of unknown etiology in which RBCs become hyperdense and dehydrated.[4]
- Like hereditary spherocytosis, this condition presents in neonates with anemia and an increased mean corpuscular hemoglobin concentration (MCHC), but unlike hereditary spherocytosis, the RBCs have irregular borders and varying numbers of projections, and the condition resolves spontaneously during the first year of life without intervention.
- Other inherited hemolytic anemias
- Other inherited RBC membrane disorders include hereditary elliptocytosis (HE) and elliptocytosis variants (eg, Southeast Asian ovalocytosis (SAO), hereditary pyropoikilocytosis (HPP), hereditary stomatocytosis (HSt), and hereditary xerocytosis (HX).
- RBC enzyme disorders include glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate kinase (PK) deficiency, and other rare metabolic disorders.
- Like hereditary spherocytosis, these present with variable degrees of anemia and hemolysis and can be diagnosed at any age.
- Unlike the other disorders, G6PD deficiency typically presents with more discreet episodes of hemolysis after exposure to oxidant drugs.
- Unlike the other membrane disorders, which each have distinctive morphologies on the blood smear, and the enzyme disorders, which typically have nonspecific findings (eg, mild reticulocytosis), hereditary spherocytosis is characterized by spherocytosis as the predominant morphology.
- Hemolytic disease of the fetus and newborn (HDFN)
- Neonates may present with severe HDFN (also called neonatal alloimmune hemolytic anemia), which is caused by maternal antibodies crossing the placenta and recognize foreign fetal RBC antigens, leading to alloimmune hemolysis.
- Like hereditary spherocytosis, neonates can present with severe jaundice and anemia requiring aggressive treatment, and HDFN can be associated with abundant spherocytes on the blood smear.
- Unlike hereditary spherocytosis, HDFN is a transient condition that resolves after the maternal antibodies are cleared, and HDFN is characterized by positive Coombs testing, which typically reveals the alloantibodies on fetal RBCs, as well as evidence of an immunologically significant discordance between maternal and neonatal blood type.
- Autoimmune hemolysis
References
- ↑ Robert D. Christensen, Hassan M. Yaish & Patrick G. Gallagher (2015). "A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates". Pediatrics. 135 (6): 1107–1114. doi:10.1542/peds.2014-3516. PMID 26009624. Unknown parameter
|month=ignored (help) - ↑ Perrotta, Silverio; Gallagher, Patrick G; Mohandas, Narla (2008). "Hereditary spherocytosis". The Lancet. 372 (9647): 1411–1426. doi:10.1016/S0140-6736(08)61588-3. ISSN 0140-6736.
- ↑ Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology (2012). "Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update". Br J Haematol. 156 (1): 37–49. doi:10.1111/j.1365-2141.2011.08921.x. PMID 22055020.
- ↑ El Nabouch M, Rakotoharinandrasana I, Ndayikeza A, Picard V, Kayemba-Kay's S (2015). "Infantile pyknocytosis, a rare cause of hemolytic anemia in newborns: report of two cases in twin girls and literature overview". Clin Case Rep. 3 (7): 535–8. doi:10.1002/ccr3.288. PMC 4527790. PMID 26273436.