Hereditary Thrombocytopathy: A Familial Bleeding Disorder due to Impaired Platelet Coagulant Activity

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Abstract
A family with a bleeding disorder due to congenital thrombocytopenic thrombocytopathy is described, with 10 affected members in 3 generations. The disorder was inherited as an autosomal dominant trait and was characterized by thrombocytopenia, morphologically abnormal platelets, prolonged bleeding time, platelet coagulant activity deficiency and abnormal platelet aggregation. Defects in platelet aggregation and release were not corrected by addition of normal plasma, indicating an intrinsic abnormality of platelets. The deficiency of platelet coagulant activity caused a delay and decrease in the conversion of prothrombin to thrombin; the lack of thrombin may account for the defective release reaction and the reversible aggregation. An inadequate hemostatic plug due to decreased release of ADP, together with instability of the plug provide an explanation for the bleeding tendency in thrombocytopathy.