Inherited platelet function disorders
Abstract
Inherited platelet function disorders (IPFD) constitute a large group of diseases involving a wide range of genetic defects that can lead to bleeding symptoms of varying severity. They are associated with defects in surface membrane glycoproteins resulting in e.g. Bernard Soulier Syndrome and Glanzmann Thrombasthenia causing defects in platelet adhesion and aggregation, respectively, as well as in receptors for agonists (P2Y12), disrupting platelet signalling. Defects affecting platelet granules can be characterised by abnormalities of alpha-granules as in the Gray platelet syndrome or dense granules as in Hermansky-Pudlak and Chediak-Higashi syndromes. Finally, defects in proteins essential to signalling pathways (Ghosal syndrome) or in platelet-derived procoagulant activity (Scott and Stormorken syndromes) also impair platelet function. In some cases IPFD are associated with thrombocytopenia, giant platelets and various comorbidities. This review summarizes the state of the art of classification, clinical course, lab characteristic and treatment of IPFD.
Keywords: plateletsinherited thrombocytopathybleedingdiagnosistreatment
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