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Pulmonary Embolism and Thrombophilia Gene Mutations: Georgian Population Study

1Bokhua Memorial Cardiovascular Center, Tbilisi, Georgia, 2Tbilisi State Medical University, Tbilisi, Georgia, 3National Forensics Bureau, Forensic Biology (DNA) Department, Tbilisi, Georgia, 4Tbilisi Open University, Tbilisi, Georgia, 5Bokhua memorial Cardiovascular Center, Tbilisi, Georgia, 6K. Eristavi National Center of Experimental and Clinical Surgery, Tbilisi, Georgia

Abstract Number: PB2198

Meeting: ISTH 2020 Congress

Theme: Venous Thromboembolism and Cardioembolism » Genetic Risk Factors of Thrombosis

Background: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep venous thrombosis (DVT) and pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the prevalence of inherited thrombophilia in patients with PE and in controls without VTE.

Aims: The aim of the study was to evaluate the association of inherited thrombophilia (Factor V Leiden, Prothrombin G20210A and MTHFR C677T gene mutations) and pulmonary embolism (PE) in patients from Georgian population. To estimate whether family history of thrombosis has positive correlation with these mutations in patients with PE.

Methods: 48 (21 female and 27 male) Georgian patients (with isolated PE or combined with other complications – deep or superficial vein thrombosis, myocardial infarction, ischemic stroke, miscarriages) and 100 control group (Georgian population over 50 without VTE) were genotyped by PCR analyses. Statistical analysis was performed on SPSS v. 21 statistical software. The difference was considered to be significant when p< 0.05.

Results: Relationships between PE and Prothrombin (10.42% in patients and 1% in control; χ2 (1, N=148)=7.394, p=.014) and MTHFR (12.5% in patients and 1% in control; χ2 (1, N=148)=9.519, p=.005) mutations were significant. Relationship between PE and FVL mutation (6.25% in patients and 1% in control; χ2 (1, N=148)=3.399, p=.1) was weak. The combined double and triple mutations were seen in 4 cases. Family history of thrombosis was positive in 27 (56.25%) patients, negative in 10 (20.83%) patients and undetermined in 11 (22.92%) patients.

Conclusions: Our study reconfirms role of studied mutations (totally 25%) in PE. Opposite to other studies where FVL mutation is prevalent in pathogenesis of PE, our study revealed significant impact of Prothrombin and MTHFR gene mutations, although FVL (4.57%) is more distributed than Prothrombin gene mutation (3.72%) in Georgian population.

To cite this abstract in AMA style:

Mukhuradze T, Pirtskhelani N, Kartvelishvili K, Kochiashvili N, Pargalava N, Bokuchava M, Makhaldiani L. Pulmonary Embolism and Thrombophilia Gene Mutations: Georgian Population Study [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/pulmonary-embolism-and-thrombophilia-gene-mutations-georgian-population-study/. Accessed September 24, 2023.

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