[Recurrent pulmonary embolism secondary to hereditary thrombophilia (case report)]

Pulmonary embolism is seen commonly but diagnosed difficulty and has high mortality. There are too many risk factors that have been described for pulmonary embolism. However, the hereditary factors are important risk factors for the cases especially with recurrent pulmonary embolism. In our case who had been diagnosed as pulmonary embolism three times before and treated with anticoagulants, because of the recurrent pulmonary embolism, the genetic risk factors were investigated. Homozygous factor V Leiden mutation, deficiency of protein S and hyperhomocysteinaemia were determined in our case. In addition, in the investigation of the family, protein S, protein C and factor V Leiden mutation were determined in all three daughters of our case. Since our patient has recurrent pulmonary embolism and has more than one genetic risk factors, anticoagulant treatment was planned for lifelong. Recurrent thromboembolism is too important because of threatening the life. Identification of the genetic risk factors that result in increased tendency to thrombosis has important implications for the patients and their families.