Analysis Of Clinical Characteristics And Gene Mutations Of 9 Patients With Inherited Thrombophilia

Objective The clinical data of 9 patients with inherited thrombophilia were collected to summarize their pathogenesis and explore the relationship between treatment,prognosis and genotype.And read relevant literature to improve the understanding of inherited thrombophilia.Methods Clinical data,laboratory tests,imaging tests,activity of protein C,protein S,antithrombin III,genetic tests relating to inherited thrombophilia,treatment and prognosis of 9 patients with inherited thrombophilia who were admitted to the first affiliated hospital of guangxi medical university were analyzed and discussed retrospectively.Results Among the 9 patients,3 patients had a family history of venous thromboembolism,4 patients occurred repeatedly(≥2 times),3 patients were associated with other risk factors for venous thromboembolism(1 patient was pregnant,1 patient had primary thrombocytosis and 1 patient was given hormone therapy).Thrombotic events include: 3 patients presenting with cerebral venous thrombosis,3 patients with deep venous thrombosis of the lower extremity,1patient with cerebral infarction,and 1 patient with venous thrombosis of the upper and lower extremities,pulmonary embolism and cerebral venous thrombosis.The activity of antithrombin or protein C or protein S decreased to different degrees in 8 patients,and the activity of antithrombin or protein C or protein S in patient8 did not change.But the results of gene sequencing showed that all 9 patients had genetic mutations relating to inherited thrombophilia: c.951G> C mutation of SERPINC1 gene,c.565C>T,c.812 G > A,c.951G>C mutations of PROC gene,c.2001A>G,(C-A)+520 to termination(nt2698),c.76+1G>C,c.1063C>T mutations of PROS1 gene,and c.1000A>G mutation of F5 gene.All 8 patients with venous thrombosis received anticoagulant therapy,case 9 also received antiplatelet aggregation therapy.Case 3 presented as cerebral infarction and received antiplatelet aggregation therapy.After treatment,all 9 patients improved and were discharged from hospital.Conclusions 1.In this study,9 patients with inherited thrombophilia were presented with thromboembolism,and the first occurrence of thromboembolism was ≤30 years old.2.In this study,three new gene mutations were found in 9 patients.Namely,PROS1 gene c.935 C > A mutation,PROS1 gene c.76+1G>C mutation and SERPINC1 gene c.951G> C mutation,which may affect the activity of corresponding anticoagulant proteins and increase the risk of thrombosis.3.For patients with early onset or recurrent or familial thromboembolic episodes,as well as abnormal site thrombosis,a genetic testing is recommended to assist the diagnosis of heritable thrombolytic disorder.Individualized anticoagulant therapy should be applied according to different types of hereditary thrombotic disorder.