BACKGROUND: Hereditary dysfibrinogenemia is a rare cause of venous thromboembolism. Hereditary thrombophilia is diagnosed in about 10% of patients with thromboembolism, with the prevalence diagnosed increasing with the development of molecular biological method. METHODS: A 27-year-old woman was strongly suspected to have hereditary dysfibrinogenemia; therfore, an analysis of the molecular structure of the purified fibrinogen was performed. RESULTS: An SDS-PAGE analysis of the purified fibrinogen revealed no abnormal finding. The purified fibrinogen was treated with thrombin or coagulation factor XIII, and the products show no difference between the normal and patient's specimen on SDS-PAGE analysis. However, an HPLC analysis showed an additional abnormal peak prior to the normal fibrinopeptid A peak. CONCLUSION: A dysfunctional fibrinogen showing an abnormal peak on HPLC analysis was detected in a Korean patient. Her family also showed dysfunctional fibrinogen. In a Korean patient with recurrent thromboembolism, hereditary dysfibrinogenemia should also be taken into consideration.
Adult ; Chromatography, High Pressure Liquid ; Electrophoresis, Polyacrylamide Gel ; Factor XIII ; Female ; Fibrinogen* ; Humans ; Korea* ; Molecular Structure ; Prevalence ; Thrombin ; Thromboembolism ; Thrombophilia ; Venous Thromboembolism