Congenitale trombocytopenie bij volwassenen

Translated title of the contribution: Congenital thrombocytopenia in adults

Annette van Zweeden, Pieter Bot, Yves Smets, Wim Terpstra

Research output: Contribution to journalArticleAcademicpeer-review


Thrombocytopenia in adult patients is usually acquired. Important causes are medication, pregnancy, infections and auto-immune disorders. Here we present 2 patients, a 32-year-old and a 45-year-old man, in whom congenital thrombocytopenia was discovered in adulthood, caused by a mutation in the gene for Wiskott-Aldrich syndrome. This congenital thrombocytopenia appears in different forms. Indications for the disorder are chronic thrombocytopenia, a family history and additional clinical signs such as eczema and renal insufficiency. Measurement of the thrombocyte size is a helpful tool in the diagnosis. Recognition of congenital thrombocytopenia can have important clinical consequences.

Translated title of the contributionCongenital thrombocytopenia in adults
Original languageDutch
Pages (from-to)A2634
JournalNederlands Tijdschrift voor Geneeskunde
Publication statusPublished - 2011


  • Adult
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Prognosis
  • Thrombocytopenia/congenital
  • Wiskott-Aldrich Syndrome Protein/genetics
  • Wiskott-Aldrich Syndrome/diagnosis

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