Новая тромбофилия в результате мутации фибриногена

Фибриноген (ФГ) — фактор I свертывающей системы крови — важное звено каскада гемокоагуляции. Его основная физиологическая функция — участие в заключительной стадии процесса свертывания крови, когда растворимый фибриноген под действием тромбина и фактора XII превращается в нерастворимый фибрин. Появляется все больше данных о врожденных нарушениях синтеза и/или структуры фибриногена, дефицит которого представлен в 9,3 % случаев редких нарушений свертываемости крови. Разнообразие фенотипов при врожденном нарушении структуры ФГ, проявляющееся склонностью к кровоточивости и/или тромбозам, преимущественно в артериальном русле (инфаркты, инсульты), определяет современные трудности диагностики. В связи с этим необходимо подробнее исследовать дефекты ФГ у пациентов. В нашей работе представлен обзор современной литературы о вкладе фибриногена в патогенез сердечно-сосудистых заболеваний. В качестве подтверждения данной информации приведен клинический случай молодой женщины 36 лет, у которой развитие инфаркта миокарда без обструктивного поражения коронарных артерий произошло на фоне носительства гомозиготной мутации фибриногена (FGB −455 G/A).

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