title: [Congenital thrombocytopathies].
abstract: Inherited thrombocytopathies are much less frequent in comparison to acquired platelet function disorders. However, congenital disorders can lead to severe bleeding tendency and are often not diagnosed. They are induced by different platelet defects based on disorders of platelet adhesion, receptors, secretion and signal transduction. In some cases they are associated with thrombocytopenia, giant platelets and various comorbidities. This article gives an overview regarding diverse defects, their diagnosis and treatment options.
authors: Sektion Innere Medizin I, Deutsche Klinik für Diagnostik, Aukammallee 33, 65191 Wiesbaden, Deutschland. kirchmaier.hst@dkd-wiesbaden.de
authors: C M
authors: CM
authors: Kirchmaier
authors: D
authors: D
authors: Pillitteri
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D001791:Blood Platelet Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D001792:Blood Platelets / Q000473:pathology / Q000502:physiology*; D003937:Diagnosis, Differential; D005838:Genotype; D006474:Hemorrhagic Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008403:Mass Screening; D010974:Platelet Aggregation / Q000235:genetics / Q000502:physiology; D010979:Platelet Function Tests; D010981:Platelet Storage Pool Deficiency / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011451:Prostaglandin-Endoperoxide Synthases / Q000235:genetics; D038981:Receptors, Collagen / Q000235:genetics / Q000502:physiology; D013915:Thrombasthenia / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013930:Thromboxane-A Synthase / Q000235:genetics
chemical_list: D038981:Receptors, Collagen; D011451:Prostaglandin-Endoperoxide Synthases; D013930:Thromboxane-A Synthase