Congenitale trombocytopenie bij volwassenen

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

Congenital thrombocytopenia in adults

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.

Conflict of interest: none declared. Financial support: none declared.