Inherited platelet-based bleeding disorders.
Inherited platelet-based bleeding disorders include abnormalities of platelet number and function, and are generally classified based on the abnormal functions or responses. However, a clear distinction is problematic, and in this review, the classification has been based on abnormalities of platelet components that share common characteristics. Inherited thrombocytopenias are rare, but probably underdiagnosed. They are usually classified according to both platelet size and the presence or absence of clinical features other than those deriving from the platelet defect. Hereditary disorders of platelet function can be classified as resulting from: (i) abnormalities of the platelet receptors for adhesive proteins; (ii) abnormalities of the platelet receptors for soluble agonists; (iii) abnormalities of the platelet granules; (iv) abnormalities of the signal-transduction pathways; (v) abnormalities of the membrane phospholipids; and (vi) miscellaneous abnormalities of platelet function. The literature on these disorders is reviewed, and the underlying defects discussed.
Cattaneo
M
M
Unit of Hematology and Thrombosis, Ospedale San Paolo, Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy. marco.cattaneo@unimi.it
D001791:Blood Platelet Disorders / Q000175:diagnosis* / Q000235:genetics*; D006470:Hemorrhage; D006801:Humans; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics*