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| '''For patient information click [[Hereditary spherocytosis (patient information)|here]]''' | | '''For patient information click [[Hereditary spherocytosis (patient information)|here]]''' |
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| {{CMG}} {{ZAS}} | | {{CMG}}; {{AE}} {{ZAS}} |
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| ==[[Hereditary spherocytosis overview|Overview]]== | | ==[[Hereditary spherocytosis overview|Overview]]== |
| '''Hereditary spherocytosis''' is a genetically-transmitted form of [[spherocytosis]], an auto-[[Hemolysis|hemolytic]] [[anemia]] characterized by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to [[hemolysis]].
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| == [[hereditary spherocytosis historical perspective|Historical Perspective]] == | | == [[hereditary spherocytosis historical perspective|Historical Perspective]] == |
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| == [[hereditary spherocytosis physical examination|Physical Examination]] == | | == [[hereditary spherocytosis physical examination|Physical Examination]] == |
| * The physical examination findings in hereditary spherocytosis include;<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>
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| ** scleral icterus
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| ** jaundice
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| ** splenomegaly
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| == [[hereditary spherocytosis laboratory findings|Laboratory Findings]] == | | == [[hereditary spherocytosis laboratory findings|Laboratory Findings]] == |
| '''Initial testing'''
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| *<nowiki/>'''CBC and RBC indices''' - The mean cell hemoglobin concentration (MCHC) and red cell distribution width (RDW) are both raised in hereditary spherocytosis.<ref name="Farias2017">{{cite journal|last1=Farias|first1=Mariela Granero|title=Advances in laboratory diagnosis of hereditary spherocytosis|journal=Clinical Chemistry and Laboratory Medicine (CCLM)|volume=55|issue=7|year=2017|issn=1437-4331|doi=10.1515/cclm-2016-0738}}</ref>
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| * '''[[Blood smear]] review''' – shows the spherocytes and increased reticulocytes.
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| * '''[[Coombs test|Coombs testing]]''' – used when hemolysis is present, to differentiate hereditary spherocytosis from autoimmune hemolytic anemia (AIHA). Coombs test is negative in hereditary spherocytosis.
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| '''Confirmatory tests'''
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| ** EMA (eosin 5 maleimide binding assay) test<ref>{{Cite journal
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| | author = [[Olga Ciepiela]]
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| | title = Old and new insights into the diagnosis of hereditary spherocytosis
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| | journal = [[Annals of translational medicine]]
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| | volume = 6
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| | issue = 17
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| | pages = 339
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| | year = 2018
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| | month = September
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| | doi = 10.21037/atm.2018.07.35
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| | pmid = 30306078
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| }}</ref><ref>{{Cite journal
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| | author = [[Paola Bianchi]], [[Elisa Fermo]], [[Cristina Vercellati]], [[Anna P. Marcello]], [[Laura Porretti]], [[Agostino Cortelezzi]], [[Wilma Barcellini]] & [[Alberto Zanella]]
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| | title = Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics
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| | journal = [[Haematologica]]
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| | volume = 97
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| | issue = 4
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| | pages = 516–523
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| | year = 2012
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| | month = April
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| | doi = 10.3324/haematol.2011.052845
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| | pmid = 22058213
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| }}</ref>
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| ** Osmotic fragility test
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| ** Acidified glycerol lysis test
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| ** Cryohemolysis
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| ** Plasma membrane protein electrophoresis
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| === Imaging Findings: === | | == [[hereditary spherocytosis chest x ray|Chest X ray]] == |
| * There are no particular other imaging findings associated with HS.
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| === Other Diagnostic Studies: === | | == [[hereditary spherocytosis CT|CT]] == |
| ** There are no other diagnostic tests available for the hereditary spherocytosis.
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| | == [[hereditary spherocytosis MRI|MRI]] == |
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| | == [[hereditary spherocytosis echocardiography or ultrasound| Echocardiography or Ultrasound]] == |
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| | == [[hereditary spherocytosis other imaging findings|Other Imaging Findings]] == |
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| | == [[hereditary spherocytosis other diagnostic studies|Other Diagnostic Studies]] == |
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| == [[hereditary spherocytosis medical therapy|Treatment]] == | | == [[hereditary spherocytosis medical therapy|Treatment]] == |
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| == [[hereditary spherocytosis medical therapy|Medical Therapy]] == | | == [[hereditary spherocytosis medical therapy|Medical Therapy]] == |
| * There is no specific medical therapy for hereditary spherocytosis. As the diagnosis of hereditary spherocytosis is made, surveillance is needed to help detect and manage any complications.<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref>
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| * A routine annual review is usually sufficient to detect any complications such as parvovirus infection or abdominal pain which may necessitate the investigation for gallstones.
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| * Folate supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy, regardless of severity of hereditary spherocytosis.<ref>{{Cite journal
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| | author = [[P. H. B. Bolton-Maggs]]
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| | title = Hereditary spherocytosis; new guidelines
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| | journal = [[Archives of disease in childhood]]
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| | volume = 89
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| | issue = 9
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| | pages = 809–812
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| | year = 2004
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| | month = September
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| | doi = 10.1136/adc.2003.034587
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| | pmid = 15321852
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| }}</ref>
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| == [[hereditary spherocytosis surgery|Surgery]] == | | == [[hereditary spherocytosis surgery|Surgery]] == |
| * Splenectomy is very effective in reducing hemolysis, leading to significant prolongation of the red cell life span.<ref>{{Cite journal
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| | author = [[P. H. B. Bolton-Maggs]], [[R. F. Stevens]], [[N. J. Dodd]], [[G. Lamont]], [[P. Tittensor]] & [[M.-J. King]]
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| | title = Guidelines for the diagnosis and management of hereditary spherocytosis
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| | journal = [[British journal of haematology]]
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| | volume = 126
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| | issue = 4
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| | pages = 455–474
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| | year = 2004
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| | month = August
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| | doi = 10.1111/j.1365-2141.2004.05052.x
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| | pmid = 15287938
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| }}</ref><ref name="CasalePerrotta2014">{{cite journal|last1=Casale|first1=Maddalena|last2=Perrotta|first2=Silverio|title=Splenectomy for hereditary spherocytosis: complete, partial or not at all?|journal=Expert Review of Hematology|volume=4|issue=6|year=2014|pages=627–635|issn=1747-4086|doi=10.1586/ehm.11.51}}</ref>
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| * Patients should be selected for splenectomy on the basis of their clinical symptoms and presence of complications such as gallstones, not simply on the basis of diagnosis alone.
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| * Following splenectomy, the clinical manifestations and complications (anemia & gallstones) are much reduced in severe hereditary spherocytosis and abolished in milder cases, but at the risk of increased life threatening sepsis from encapsulated organisms, particularly streptococcus pneumoniae.<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref><ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| * Children or young adults with mild hereditary spherocytosis who also has gallstones are likely to benefit from combined splenectomy and cholecystectomy in terms of life expectancy.<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref>
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| ==[[hereditary spherocytosis primary prevention|Primary Prevention]] == | | ==[[hereditary spherocytosis primary prevention|Primary Prevention]] == |
| * The administration of vaccines (pneumococcal, haemophilus influenzae type b, meningococcal group C and influenza) is indicated 2 to 3 weeks before splenectomy.<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| * Postsplenectomy patients should also be given 1mg of folic acid daily for preventing secondary folic acid deficiency and oral penicillin (penicillin V) for preventing secondary infection until reaching adulthood.
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| == [[hereditary spherocytosis secondary prevention|Secondary Prevention]]== | | == [[hereditary spherocytosis secondary prevention|Secondary Prevention]]== |
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| | == [[hereditary spherocytosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] == |
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| | == [[hereditary spherocytosis future or investigational therapies|Future or Investigational Therapies]] == |
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| == [[Hereditary spherocytosis case study one|Case Studies]] == | | == [[Hereditary spherocytosis case study one|Case Studies]] == |