Abstract
Rare bleeding disorders include inherited deficiencies of fibrinogen, factors (F) II, FV, FVII, FX, FXI, FXII, and FV + FVIII, as well as a multiple deficiency of vitamin K-dependent coagulation factors. Some of these deficiencies are more studied, due to the large number of patients, some are extremely rare, so at this stage it is quite difficult for them to develop a universal approach to therapy and prophylactic treatment. The purpose of this review was to evaluate the frequency, clinical manifestations, genetic basis, possibilities and difficulties of diagnosis for these deficiencies.
Highlights
Rare bleeding disorders include inherited deficiencies of fibrinogen, factors (F) II, FV, FVII, FX, FXI, FXII, and FV + FVIII, as well as a multiple deficiency of vitamin K-dependent coagulation factors. Some of these deficiencies are more studied, due to the large number of patients, some are extremely rare, so at this stage it is quite difficult for them to develop a universal approach to therapy and prophylactic treatment
The authors declare no conflict of interest
Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis
Summary
Дмитрия Рогачева» Минздрава России; Россия, 117997, Москва, ул. Редкие коагулопатии включают в себя наследственные дефициты фибриногена, факторов (F) II, FV, FVII, FX, FXI, FXII и FV + FVIII, а также комбинированный дефицит витамина К-зависимых факторов. Какие-то из данных дефицитов являются более изученными в связи с большим числом пациентов, какие-то дефициты остаются крайне редкими, поэтому на данном этапе для них представляется достаточно сложной проблемой выработка универсального подхода к терапии и профилактике. Задачей данного обзора было оценить частоту, клиническую картину, генетическую основу, возможности и сложности диагностики данных дефицитов. Ключевые слова: редкие коагулопатии, FXII, концентраты факторов, криопреципитат, фибриноген. Российский журнал детской гематологии и онкологии 2020;7(3):
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