Clinical Characteristics And Pathogenic Gene Identification Of Four Patients With Suspected Thrombophilia

Background:Thrombosis is a condition with a high tendency to form thrombosis,and the common clinical manifestations are venous thrombosis.Venous thrombotic diseases have high morbidity and mortality,and pose a serious burden on global health and economy.The risk factors are heredity and acquired,and heredity accounts for 60%.Patients with thrombophilia have younger age of first occurrence of thromboembolism events,recurrent thromboembolism events,or thrombosis aggravation and new site thrombosis in the course of anticoagulant treatment.Genetic testing is not a routine examination for the cause of thromboembolism,so it is difficult to diagnose hereditary thrombophilia in clinic.The gene mutations of hereditary thrombophilia have ethnic heterogeneity.The common gene mutations of thrombophilia in Chinese population are mainly gene mutations of anticoagulant protein system,which are different from Caucasian population mainly FⅤ Leiden mutation.Objective:To analyze the clinical manifestations,past history,laboratory examination,pathogenic gene detection and risk factors of four suspected patients with thrombophilia,so as to further understand the characteristics of clinical manifestations and pathogenic genes of thrombophilia,and to guide the prevention and treatment of thrombophilia.Methods:According to the inclusion and exclusion criteria,the medical history,laboratory and imaging examination results and gene test results of 4 patients with suspected thrombophilia were discussed and analyzed,and the disease outcomes of the patients were followed up after anticoagulant treatment.Results:Heterozygous mutations of PROC:c.565C>T,p.R189 W and PROC:c.577＿579del AAG were found in patient 1.Patient 2 found SERPINC1:c.1277C>T,p.Ser426 Leu heterozygous mutation;Patient3 found heterozygous mutations in PROC : c.577＿579del AAG and PROC:c.889G>C,p.D297 H.Patient 4 had no common genetic risk factors for thromboembolism.Conclusion:Thrombophilia is mainly manifested as venous thromboembolism,and recurrent thrombosis may occur.Genetic factors increase the risk of thrombophilia.For patients with suspected thrombophilia,genetic testing is helpful to confirm the diagnosis,and guide treatment.