Congenital deficiency of factor XIII with platelet dysfunction

Abstract

This report presents a congenital factor XIII deficiency with platelet dysfunction.R. S., a 18-yr-old Japanese girl, experienced the first episode of bleeding at age of 4 days, with a sever and prolonged umbilical vein hemorrhage. Since childhood she had repeatedly suffered prolonged bleeding after cut, or dental extraction. She also exhibited slow healing of wounds. She was admitted to hematologic clinic in Oct. 1973 because of hemorrhagic diatheses. The family history revealed no consanguineous marriage. No members of her family exhibited any hemorrhagic manifestations.No abnormality was found in various laboratory test except for thrombelastogram and clot lysis test. Patient's plasma clot in 5M urea or 1% monochloracetic acid solution dissolved within 60 minutes. Assay of factor XIII level by antiserum inhibition method revealed low level less than 2% in the patient. Factor XIII level of father, mother and brother was 80, 100 and 100%, respectively.Gel diffusion test disclosed the absence of factor XIII subunit A in patient's platelets.Platelet aggregation study revealed moderately impaired aggregation of patient's platelet in employing ADP (final conc. 2.5-5×10-6M), collagen (6μg/ml), adrenaline (5.5×10-5M), thrombin (0.25U/ml) or bovine fibrinogen (0.1-0.2mg/ml).Platelet retention test by Hellem II glass beads column showed normal retention.Amount of patient's platelet factor 3 and 4 after destroying platelets was within normal limits. Platelet factor 3 availability test using Kaolin-Stypven time method disclosed slightly impaired factor 3 availability.The amount of released platelet factor 4 during aggregation of patient's platelet induced by ADP (final conc. 1×10-5-10-4M) or collagen (2-15μg/ml) was always less than 1%.