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Clinical and Laboratory Characteristics of Patients with Hereditary Thrombophilias in the North-Western Region of Russia

O. Soldatenkova1,2, V. Soldatenkov1, L. Papayan1, S. Kapustin1, N. Gordeev2, N. Mineeva1, A. Chechetkin1, K. Komissarov1

1Russian Scientific Research Institute of Hematology and Transfusiology, Saint Petersburg, Russian Federation, 2Pavlov First St. Petersburg Medical University, Saint Petersburg, Russian Federation

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.

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