Hereditary spherocytosis history and symptoms: Difference between revisions
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* [[Child|Children]] [[Diagnosis|diagnosed]] early in life usually have a severe form of [[Hereditary spherocytosis|hereditary spherocytosis]] that results in their early presentation. [[Jaundice]] is likely to be most prominent in [[newborns]]. The magnitude of [[hyperbilirubinemia]] may be such that [[exchange transfusion]] is required. Approximately 30-50% of [[Adult|adults]] with [[Hereditary spherocytosis|hereditary spherocytosis]] had a history of [[jaundice]] during the [[Infant|first week of life]]. Recognition of [[hereditary spherocytosis]] as a potential [[Causality|cause]] of [[neonatal]] [[anemia]] and [[hyperbilirubinemia]] and institution of prompt treatment may reduce the risk of [[Kernicterus|bilirubin-induced neurologic dysfunction]] in these [[Patient|patients]].<ref name="pmid26009624">{{cite journal| author=Christensen RD, Yaish HM, Gallagher PG| title=A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. | journal=Pediatrics | year= 2015 | volume= 135 | issue= 6 | pages= 1107-14 | pmid=26009624 | doi=10.1542/peds.2014-3516 | pmc=4444801 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26009624 }}</ref> | |||
* Beyond the [[neonatal]] period, [[jaundice]] rarely is intense. [[Icterus]] is intermittent and may be triggered by [[fatigue]], cold exposure, emotional distress, or [[pregnancy]]. An increase in [[Sclera|scleral]] [[icterus]] and a darker [[urine]] color commonly are observed in [[Child|children]] with nonspecific [[Virus|viral infections]]. [[Adult|Adults]] who remain undiagnosed usually have a very mild form, and their [[hereditary spherocytosis]] remains undetected until challenged by an environmental stressor. | |||
* [[Gallstones]] of the pigment type, resulting from excess [[unconjugated bilirubin]] in [[bile]], may be found in very young [[Child|children]], but the [[incidence]] of [[Gallstone|gallstones]] increases markedly with [[Ageing|age]]. In patients with mild [[Hereditary spherocytosis|hereditary spherocytosis]], [[cholelithiasis]] may be the first [[Medical sign|sign]] of an underlying [[Red blood cell|red cell]] [[Disorder (medicine)|disorder]]. | |||
==Symptoms== | |||
* [[Symptom|Symptoms]] and history of [[hereditary spherocytosis]] include: | * [[Symptom|Symptoms]] and history of [[hereditary spherocytosis]] include: | ||
** [[hemolysis]] | ** [[hemolysis]] | ||
| Line 63: | Line 68: | ||
** [[pyelonephritis]] | ** [[pyelonephritis]] | ||
** [[hyperbilirubinemia]] | ** [[hyperbilirubinemia]] | ||
==References== | ==References== | ||
Latest revision as of 02:18, 19 December 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The hereditary spherocytosis is a familial hemolytic disorder with high heterogeneity. Clinical features range from asymptomatic to fulminant hemolytic anemia. History and symptoms of hereditary spherocytosis include: yellowing of skin, fatigue, irritability, weakness, shortness of breath, anemia, hemolysis, thrombocytopenia and hyperbilirubinemia. Pigment gallstones may be found in young children, but incidence of gallstones increases markedly with age, however jaundice is more prominent in newborns.
History
- Hereditary spherocytosis is a familial hemolytic disorder with marked heterogeneity.[1][2][3]
- Clinical features range from asymptomatic to fulminant hemolytic anemia.[4]
- Children diagnosed early in life usually have a severe form of hereditary spherocytosis that results in their early presentation. Jaundice is likely to be most prominent in newborns. The magnitude of hyperbilirubinemia may be such that exchange transfusion is required. Approximately 30-50% of adults with hereditary spherocytosis had a history of jaundice during the first week of life. Recognition of hereditary spherocytosis as a potential cause of neonatal anemia and hyperbilirubinemia and institution of prompt treatment may reduce the risk of bilirubin-induced neurologic dysfunction in these patients.[5]
- Beyond the neonatal period, jaundice rarely is intense. Icterus is intermittent and may be triggered by fatigue, cold exposure, emotional distress, or pregnancy. An increase in scleral icterus and a darker urine color commonly are observed in children with nonspecific viral infections. Adults who remain undiagnosed usually have a very mild form, and their hereditary spherocytosis remains undetected until challenged by an environmental stressor.
- Gallstones of the pigment type, resulting from excess unconjugated bilirubin in bile, may be found in very young children, but the incidence of gallstones increases markedly with age. In patients with mild hereditary spherocytosis, cholelithiasis may be the first sign of an underlying red cell disorder.
Symptoms
- Symptoms and history of hereditary spherocytosis include:
References
- ↑ Yuki Tateno, Ryoji Suzuki & Yukihiro Kitamura (2016). "Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report". Journal of medical case reports. 10 (1): 337. doi:10.1186/s13256-016-1144-8. PMID 27906107. Unknown parameter
|month=ignored (help) - ↑ Maria Christina Lopes Araujo Oliveira, Rachel Aparecida Ferreira Fernandes, Carolina Lins Rodrigues, Daniela Aguiar Ribeiro, Maria Fernanda Giovanardi & Marcos Borato Viana (2012). "Clinical course of 63 children with hereditary spherocytosis: a retrospective study". Revista brasileira de hematologia e hemoterapia. 34 (1): 9–13. doi:10.5581/1516-8484.20120006. PMID 23049376.
- ↑ Immacolata Andolfo, Roberta Russo, Antonella Gambale & Achille Iolascon (2016). "New insights on hereditary erythrocyte membrane defects". Haematologica. 101 (11): 1284–1294. doi:10.3324/haematol.2016.142463. PMID 27756835. Unknown parameter
|month=ignored (help) - ↑ Sayeeda Huq, Mark A. C. Pietroni, Hafizur Rahman & Mohammad Tariqul Alam (2010). "Hereditary spherocytosis". Journal of health, population, and nutrition. 28 (1): 107–109. PMID 20214092. Unknown parameter
|month=ignored (help) - ↑ Christensen RD, Yaish HM, Gallagher PG (2015). "A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates". Pediatrics. 135 (6): 1107–14. doi:10.1542/peds.2014-3516. PMC 4444801. PMID 26009624.