Factor XIII deficiency associated with Klippel-Weber disease, platelet dysfunction and cryofibrinogenemia.
A 23-year-old woman with factor XIII deficiency was presented. The patient had no consanguinity, but familial traits were present. A bleeding tendency and poor wound healing had been noted in the patient since birth. She had hemangiomas in the leg and vulva (Klippel-Weber disease). Hematologic studies revealed platelet dysfunction, cryofibrinogenemia and mild chronic disseminated intravascular coagulation with prolonged PT and PTT, hypofibrinogenemia, a high turnover rate of 125I-fibrinogen and mild elevation of fibrinogen-fibrin degradation products, beta-thromboglobulin and platelet factor 4. A decrease in clot retraction and a marked reduction in maximal amplitude of thrombelastogram were also found. The assay of the factor XIII level was 10% by the antiserum inhibition method, and the assay of subunits A and S were 16 and 29%, respectively, by the electroimmunoassay method. Transamidase activity of factor XIII was 26%. The level of factor XIII of her sister was low, similar to that of the patient. The concentration of cold-insoluble globulin in EDTA-plasma was 36.5 mg/dl.
D000328:Adult; D000798:Angiomatosis / Q000150:complications*; D000937:Antigen-Antibody Reactions; D001791:Blood Platelet Disorders / Q000150:complications*; D001796:Blood Protein Disorders / Q000097:blood* / Q000150:complications; D003080:Cold Temperature; D003450:Cryoglobulins / Q000276:immunology; D004211:Disseminated Intravascular Coagulation / Q000150:complications; D005177:Factor XIII Deficiency / Q000150:complications*; D005260:Female; D005340:Fibrinogen / Q000276:immunology; D006801:Humans; D007120:Immunochemistry; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications*; D010973:Platelet Adhesiveness; D010977:Platelet Factor 3 / Q000032:analysis; D001620:beta-Thromboglobulin / Q000032:analysis
D003450:Cryoglobulins; D001620:beta-Thromboglobulin; D010977:Platelet Factor 3; D005340:Fibrinogen