Congenital Protein C Deficiency Combined with a Congenital Abnormal Plasminogen with Deep Venous Thrombosis

Abstract

Two cases of congenital protein C deficiency combined with a congenital abnormal plasminogen with deep venous thrombosis were reported. First case (AA) was a 41 year-old male who had a suprasaggital venous thrombosis and left femoral venous thrombosis. Hemostatic tests of the family revealed that his elder daughter and a son had a molecular abnormality of plasminogen, and his younger daughter had the same hemostatic abnormalities (protein C deficiency and abnormal plasminogen). None of them showed thrombotic symptom. Second case (YO) was a 33 year-old male who had recurrent right femoral venous thrombosis. His father had an abnormal plasmionogen but normal level of protein C activity and antigen. The mode of inheritance was not clear because of unavailability of tests of their relatives. Although two proposita were found to be heterozygotes with abnormal plasminogen (normal Ala-601 [GCT] to abnormal Thr-601 [ACT]) by the analysis of DNA sequencing, molecular analysis of protein C deficiency remained to be cleared.