Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia

Grace I. Butel-Simoes, Penelope Jones, Erica M. Wood, Denis Spelman, Ian J. Woolley, Samar Ojaimi

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than syndromic forms. The risk of severe bacterial infections associated with asplenia is the most concerning clinical implication and carries a significant mortality risk. Prophylactic measures against the clinical syndrome known as overwhelming postsplenectomy infections (OPSI) include vaccination, prophylactic and emergency antibiotics and health education including fever management and travel advice. This case series describes fourteen adults with congenital asplenia and polysplenia syndrome, most of whom were diagnosed incidentally as adults, and outlines the nature of their diagnosis, clinical phenotype, family history and key pathology findings.

Original languageEnglish
Pages (from-to)1421–1434
Number of pages14
JournalAnnals of Hematology
Volume101
Issue number7
DOIs
Publication statusPublished - Jul 2022

Keywords

  • Congenital asplenia
  • Congenital polysplenia
  • Howell-Jolly bodies
  • Spleen

Cite this