Investigation of genetic risk factors in pulmonary embolism patients

AIM: Besides acquired risk factors, inherited thrombophilias were thought to play an important role in the etiology of pulmonary embolism (PE) and its recurrence. It was aimed to research the presence of genetic factors in PE patients with a past or ongoing medical treatment for PE.METHODS: We reached the hospital data of 281 patients objectively diagnosed as PE between 2006 and 2009. The patients who were already detected about genetic risk factors for PE or met the exclusion criteria were excluded. 90 patients who accepted to join the study were called; anamnesis about PE history and demographic characteristics were recorded. The screening for thrombophilia included mutations of Factor V Leiden, prothrombin G20210A, MTHFR C677T and A1298C; the serum levels of anithrombin III, protein C, protein S, factor VIII and activated protein C resistance.RESULTS: 42 male (46.7 %) and 48 female (53.3%) patients had a mean age of62.6 + 13,4. The main inherited thrombophilias (FVL, PTM mutations, AT III, protein C and S deficiencies) were found in 30 % of all cases (FVL: 19.1 %, PTM G20210A : 3.4 %, ATIII deficiency: 1.1 %, protein C deficiency : 5.7 %, protein S deficiency: 13.6 %). There wereno statistically significant results in subgroups of patients combined with deep venous thrombosis (DVT), and family history of PE about presence of inherited thrombophilias.A significant association between recurrence of PE (10 patients-12.2 %) and protein S deficiency was established (p = 0.040). Serum protein C level was also significantly lower in the subgroup of recurrent PE patients (p = 0.049). It was remarkable that all patients with PE recurrence had minimum one type of inherited thrombophilias. While FVL and PTM mutations were high in cancer patients, the presence of inherited thrombophilia was low in PE patients with risk factors of surgery and immobilization.CONCLUSION: Genetic risk factors were found high in PE patients. It was found that protein C and S deficiencies may play role in PE recurrence, so routine screening for protein C and S may predict about the recurrence of PE. The presence of a genetic risk factor (at least one) can be a sign for possible recurrence of PE. DVT combined with PE or the family history of PE didn?t seem to be related with inherited thrombophilias. Surgery and immobilization were thought not to have priorities for the detection of genetic risk factors in PE. The high percentages of FVL and PTM mutations in cancer patients with PE should be considered.