Erblich bedingte Thrombozytopenien

Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.