Abstract
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 contribution | Congenital thrombocytopenia in adults |
|---|---|
| Original language | Dutch |
| Pages (from-to) | A2634 |
| Journal | Nederlands Tijdschrift voor Geneeskunde |
| Volume | 155 |
| Publication status | Published - 2011 |
Keywords
- Adult
- Humans
- Male
- Middle Aged
- Mutation
- Prognosis
- Thrombocytopenia/congenital
- Wiskott-Aldrich Syndrome Protein/genetics
- Wiskott-Aldrich Syndrome/diagnosis