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Clinico-laboratory Findings in Patients with Hereditary Thrombophilia in the North-Western Region of Russia

1Russian Research Institute of Hematology and Transfusiology, Saint Petersburg, Saint Petersburg City, Russia, 2Russian Scientific Research Institute of Hematology and Transfusiology, Saint-Petersburg, Saint Petersburg City, Russia, 3Russian Research Institute of Haematology and Transfusiology, Saint Petersburg, Saint Petersburg City, Russia, 4Russian Research Institute of Hematology and Transfusiology, Saint-Petersburg, Saint Petersburg City, Russia

Abstract Number: VPB0963

Meeting: ISTH 2022 Congress

Theme: Venous Thromboembolism » Thrombophilia

Background: Nowadays the role of hereditary thrombophilias in thrombosis pathogenesis is obvious and it’s necessary to reveal its impact on clinical course.

Aims: To study clinico-laboratory features of patients with hereditary thrombophilia.

Methods: 131 case-records of patients, who underwent treatment at our department in 2017-2022, were studied. Inclusion criteria: verified arterial or venous thrombosis and confirmed 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=20), II – isolated mutation in Prothrombine G20210A (n=8), III – isolated antithrombine deficiency (n=5), IV – isolated Protein C deficiency (n=1), V – isolated FVIII elevation (n=19), VI – isolated hyperhomocysteinemia (MTHFR, MTRR mutations, confirmed phenotypically) (n=10), VII – isolated primary antiphospholipid syndrome (n=3), VIII – combination of three and more thrombophilia markers (n=9), IX – combination of two strong thrombophilia markers (n=6), X – strong and moderate thrombophilia markers combination (n=50). Clinical and laboratory data of those groups were analyzed.

Results: 1. 208 strong or moderate thrombophilia markers were found. The most common was FV Leiden mutation (23.08%) and hyperhomocysteinemia (27.88%).

2. Combined thrombophilias were found in 49.62%. Combination of Leiden mutation with hyperhomocysteinemia was the most common combined thrombophilia (26.15%).

3. 508 thrombotic events were found: 15.75% in arterial vessels, 84.25% in venous vessels. The most common arterial localization – popliteal artery (26.25%), and venous localization – popliteal and superficial femoral veins (21.5% and 20.1%).

4. In 29.77% of patients the first thrombotic event was life-threatening (69.23% – pulmonary embolism).

5. Some initial thromboses had atypical localization (renal vein, transverse and sigmoid brain sinuses)

6. The median age of first thrombosis was 40.5 years.

Conclusion(s): Young patients with atypical or life-threatening thrombosis should be tested for hereditary thrombophilia.

To cite this abstract in AMA style:

Soldatenkov V, Soldatenkova O, Papayan L, Silina N, Komissarov K, Kapustin S, Burakov V, Saltykova N, Matvienko O, Smirnova O. Clinico-laboratory Findings in Patients with Hereditary Thrombophilia in the North-Western Region of Russia [abstract]. https://abstracts.isth.org/abstract/clinico-laboratory-findings-in-patients-with-hereditary-thrombophilia-in-the-north-western-region-of-russia/. Accessed October 1, 2023.

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