Homozygous protein C deficiency combined with heterozygous dysplasminogenemia found in a 21-year-old thrombophilic male.
A congenital, probably homozygous deficiency of protein C combined with a heterozygous molecular abnormality of plasminogen was found in a 21-year-old male who had been suffering from recurrent venous thrombosis since the age of 14. Although the homozygous deficiency of protein C has been reported to be closely associated with fatal purpura fulminans or severe and massive thrombotic diseases during the neonatal period, the patient had survived the neonatal period without any clinical manifestations relevant to thrombosis. The patient apparently inherited the genetic abnormality of protein C deficiency from both of his parents and that of abnormal plasminogen from his father.
D000328:Adult; D001778:Blood Coagulation Disorders / Q000097:blood / Q000235:genetics*; D005260:Female; D005342:Fibrinolysis; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010958:Plasminogen / Q000235:genetics*; D011486:Protein C; D013924:Thrombophlebitis / Q000097:blood / Q000235:genetics*
D006023:Glycoproteins; D011486:Protein C; D010958:Plasminogen