title: Inherited giant platelet disorders. Classification and literature review.
abstract: Inherited giant platelet disorders are extremely rare. The aim of this article is to review the clinical and laboratory features of this heterogeneous group and to arrive at a working classification. We conducted our literature search using the National Library of Medicine database. A total of 12 clinical entities were described. We classified them into 4 groups depending on the clinical and structural abnormalities. The pathophysiology of these disorders is largely unknown, and more research is needed, particularly in the light of recent advances in laboratory medicine. This review may provide a valuable reference for clinicians and may form a basis for future classification and research.
authors.affiliation: Department of Pathology at Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: P
authors.initials: P
authors.lastname: Mhawech
authors.forename: A
authors.initials: A
authors.lastname: Saleem
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D001792:Blood Platelets / Q000648:ultrastructure; D018955:CD36 Antigens / Q000235:genetics; D006801:Humans; D010974:Platelet Aggregation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics
chemical_list: D018955:CD36 Antigens; D019038:Platelet Glycoprotein GPIb-IX Complex