Abstract Number: PB2186
Meeting: ISTH 2020 Congress
Theme: Venous Thromboembolism and Cardioembolism » Genetic Risk Factors of Thrombosis
Background: The role of hereditary trombophilias in the genesis of thrombosis is one of the most important. The clinical peculiarities of different thrombophilia forms are still discussed.
Aims: To study clinical and laboratory characteristics of patients with different forms of hereditary thrombophilia.
Methods: 68 case-records of patients, who underwent treatment in Russian Scientific Research Institute of Hematology and Transfusiology in 2017-2019, were studied. Inclusion criteria: verified arterial or venous thrombosis and verified hereditary thrombophilia. Exclusion criteria: JAK2, CALR, MPL mutations. The following groups of patients were formed on the base of the molecular genetics and coagulation tests: I – isolated FV Leiden mutation (n=12), II – isolated mutation in Prothrombine gene G20210A (n=5), III – isolated FVIII elevation (n=8), IV – isolated hyperhomocysteinemia (MTHFR, MTRR mutations, confirmed phenotypically) (n=4), V – isolated primary antiphospholipid syndrome (n=4), VI – three thrombophilia markers combination (n=2), VII – two strong thrombophilia markers combination(n=2), VIII – strong and moderate thrombophilia markers combination (n=32). Clinical and laboratory data of those groups were analyzed.
Results:
1. Isolated thrombophilias were found in 47.06% of cases, combined – in 52.94%. The FV Leiden mutation was the most common isolated thrombophilia (37.5%). Combination of FV Leiden mutation with hyperhomocysteinemia was the most common combined thrombophilia (38,9%).
2. The median age of first thrombosis was 39,8±1,8 years (from 1 year to 84 years).
3. Women/men ratio was 61,76%/38,24%.
4. Venous thrombosis was found in 73,53%, arterial – in 11,77%, combined – in 14,7% of patients.
5. Provocative factor was established in 54,41%.
6. Non-inflammatory hyperfibrinogenemia was found in 27.94% of cases.
7. In analyzed patients incidence of B (III) blood group was 3,03 times higher than in average population.
Conclusions: Thrombophilia screening is necessary for patients with venous/arterial thrombosis. Blood group B (III) can be considered as an additional thrombophilia risk factor.
To cite this abstract in AMA style:
Soldatenkova O, Soldatenkov V, Papayan L, Kapustin S, Gordeev N, Mineeva N, Chechetkin A, Komissarov K. Clinical and Laboratory Characteristics of Patients with Hereditary Thrombophilias in the North-Western Region of Russia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/clinical-and-laboratory-characteristics-of-patients-with-hereditary-thrombophilias-in-the-north-western-region-of-russia/. Accessed August 15, 2022.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/clinical-and-laboratory-characteristics-of-patients-with-hereditary-thrombophilias-in-the-north-western-region-of-russia/