title: Inherited platelet disorders.
abstract: Inherited platelet disorders may be the cause of bleeding symptoms of varying severity as platelets fail to fulfil their haemostatic role after vessel injury. Platelet disorders may be difficult to diagnose (and are likely to be misdiagnosed) and raise problems in therapy and management. This review explores the clinical and molecular genetic phenotype of several inherited disorders. Inherited platelet disorders can be classified according to their platelet defects: receptor defects (adhesion or aggregation), secretion disorder, and cytoskeleton defects. The best characterized platelet receptor defects are Glanzmann thrombasthenia (integrin αIIbβ3 defect) and Bernard-Soulier syndrome (defect of GPIb/IX/V). Detailed case reports of patients suffering from Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome (BSS) showing the bleeding diathesis as well as investigation of platelet aggregation/agglutination and platelet receptor expression will complement this review. In addition, Hermansky-Pudlak syndrome (HPS) as an important defect of δ-granule secretion is extensively described together with a case report of a patient suffering from HPS type 1.
authors.forename: Kirstin
authors.initials: K
authors.lastname: Sandrock-Lang
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Wentzell
authors.forename: Sentot
authors.initials: S
authors.lastname: Santoso
authors.affiliation: Prof. Dr. Barbara Zieger, University Medical Center Freiburg, Department of Pediatrics and Adolescent Medicine, Mathildenstr. 1, 79106 Freiburg, Germany, Tel. +49/(0)761/27 04-30 00, Fax -58 20, E-mail: barbara.zieger@uniklinik-freiburg.de.
authors.forename: Barbara
authors.initials: B
authors.lastname: Zieger
mesh_terms: D001791:Blood Platelet Disorders / Q000235:genetics* / Q000276:immunology*; D001792:Blood Platelets / Q000276:immunology* / Q000378:metabolism*; D016207:Cytokines / Q000235:genetics* / Q000276:immunology*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D016207:Cytokines
keywords: Bernard-Soulier syndrome; Glanzmann thrombasthenia; Hermansky-Pudlak syndrome; granule secretion; platelet receptors