Hereditary spherocytosis differential diagnosis: Difference between revisions

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{{Hereditary spherocytosis}}
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{{CMG}}
{{CMG}}
==Overview==
==Overview==
[[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==
* [[Glucose-6-phosphate dehydrogenase deficiency]]
* [[Hereditary spherocytosis]] presents with [[hemolysis]], therefore should be [[Differentiate|differentiated]] from following [[Disease|diseases]].<ref>{{Cite journal
* [[Hemoglobin H disease]]
| author = [[Robert D. Christensen]], [[Hassan M. Yaish]] & [[Patrick G. Gallagher]]
* [[Autoimmune hemolytic anemia]]s or [[alloimmune hemolytic anemia]] (eg, [[ABO incompatibility]])
| title = A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates
* Extrinsic nonimmune hemolytic anemia due to systemic disease
| journal = [[Pediatrics]]
* [[Microangiopathic hemolytic anemia]]
| volume = 135
| issue = 6
| pages = 1107–1114
| year = 2015
| month = June
| doi = 10.1542/peds.2014-3516
| 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>
** [[Autoimmune hemolytic anemia|Autoimmune hemolysis]]
*** [[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 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]], [[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 [[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]]
** [[Clostridia|Clostridial]] [[Sepsis|septicemia]]
** [[Wilson's disease|Wilson disease]]
** [[Hemoglobinopathy|Hemoglobinopathies]]
** [[Hereditary stomatocytosis]]
** [[Congenital dyserythropoietic anemia|Congenital dyserythropoietic anemia type II]]
*** [[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 [[Test|tests]] such as EMA binding may be positive.
*** 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>
** [[Infant|Infantile]] [[Pyknosis|pyknocytosis]]
*** 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 [[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 anemia|hemolytic anemias]]
*** 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).
*** [[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 [[Diagnosis|diagnosed]] at any [[Ageing|age]].
*** 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]] [[Disorder (medicine)|disorders]], which each have distinctive [[Morphology|morphologies]] on the [[Blood film|blood smear]], and the [[enzyme]] [[Disorder (medicine)|disorders]], which typically have nonspecific findings (eg, [[Reticulocytosis|mild reticulocytosis]]), [[hereditary spherocytosis]] is characterized by [[spherocytosis]] as the predominant [[morphology]].
**[[Hemolytic disease of the newborn|Hemolytic disease of the fetus and newborn (HDFN)]]
*** [[Infant|Neonates]] may present with severe [[Hemolytic disease of the newborn|HDFN]] (also called [[Hemolytic disease of the newborn|neonatal alloimmune hemolytic anemia]]), which is [[Causality|caused]] by maternal [[antibodies]] crossing the [[placenta]] and recognize [[Foreign bodies|foreign]] [[Fetus|fetal]] [[Red blood cell|RBC]] [[Antigen|antigens]], leading to [[Alloimmunity|alloimmune]] [[hemolysis]].
*** Like [[hereditary spherocytosis]], [[Infant|neonates]] can present with severe [[jaundice]] and [[anemia]] requiring aggressive treatment, and [[Hemolytic disease of the newborn|HDFN]] can be [[Association (statistics)|associated]] with abundant [[Spherocytosis|spherocytes]] on the [[Blood film|blood smear]].
*** Unlike [[hereditary spherocytosis]], [[Hemolytic disease of the newborn|HDFN]] is a transient [[Disease|condition]] that resolves after the maternal [[antibodies]] are cleared, and [[Hemolytic disease of the newborn|HDFN]] is characterized by [[Coombs test|positive coombs testing]], which typically reveals the [[Antibody|alloantibodies]] on [[Fetus|fetal]] [[Red blood cell|RBCs]], as well as evidence of an [[Immunology|immunologically]] significant discordance between maternal and [[Infant|neonatal]] [[blood type]].


==References==
==References==

Latest revision as of 20:58, 26 February 2019

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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

References

  1. 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)
  2. 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.
  3. 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.
  4. 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.

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