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Familial Evans syndrome: a report of an affected sibship

A G McLeod1, M Pai, R F Carter

  • 1Department of Hematology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Journal of Pediatric Hematology/Oncology
|June 11, 1999
PubMed

Insights

Three siblings were diagnosed with familial Evans syndrome, a rare autoimmune disorder. One sibling required splenectomy, while the others responded to corticosteroids, highlighting varied disease presentations.

Area of Science:

  • Pediatrics
  • Hematology
  • Genetics

Background:

  • Evans syndrome is a rare autoimmune disorder characterized by the simultaneous or sequential occurrence of autoimmune hemolytic anemia and immune thrombocytopenia.
  • Familial cases of Evans syndrome are uncommon and often linked to inherited congenital abnormalities.

Observation:

  • A family presented with three siblings diagnosed with Evans syndrome during childhood.
  • The affected siblings included a 4-month-old girl and her two older brothers.
  • Cytogenetic analysis identified a familial Y;15 translocation in all affected siblings and their father.

Findings:

  • The infant girl experienced a severe, relapsing course unresponsive to multiple treatments, ultimately responding to splenectomy.
  • Her brothers had milder Evans syndrome, with their conditions managed effectively by corticosteroids.
  • The presence of a familial Y;15 translocation suggests a potential genetic predisposition or link to the syndrome in this family.

Implications:

  • This case highlights the unusual occurrence of familial Evans syndrome without known congenital abnormalities.
  • The varied clinical presentations and treatment responses underscore the complexity of managing this rare condition.
  • Further research into the genetic underpinnings of familial Evans syndrome may reveal novel diagnostic and therapeutic targets.
Abstract

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