Introduction. Combined deficiency of factors V and VIII is a rare hereditary bleeding disorder with a prevalence of 1:1,000,000 in the general population, but the disease is more common in regions where consanguineous marriages are acceptable. Data on this hereditary coagulopathy in the Russian Federation are limited.Aim: to analyze clinical and laboratory characteristics of the course of the disease in patients with hereditary combined deficiency of factors V and VIII in the Russian population.Materials and methods. The retrospective and prospective study involved 6 patients with hereditary combined deficiency of factors V and VIII in the Russian population.Results. The average age of patients was 50 years (32–72 years). The average age at the time of diagnosis was 40 years. Bleeding scores on the ISTH-BAT scale ranged from 17–29, with an average value of 23.5. The average value of activated partial thromboplastin time was 85 seconds, the prothrombin by Quick was 35 %, and the activity of FV and FVIII was 5.7 % and 9.0 %, respectively. The course of the disease was characterized more or less by cutaneous-mucous hemorrhagic syndrome, postoperative, obstetric-gynecological, and life-threatening bleeding.Conclusion. Clinical and laboratory characteristics of patients expand the understanding of hereditary combined deficiency of factors V and VIII and make it possible to accelerate diagnosis verification.
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