Гемохроматоз и поражение сердца

   Гемохроматоз при отсутствии терапии представляет собой опасное для жизни состояние, связанное с избыточным содержанием железа в организме. Выделяют первичный (наследственный) гемохроматоз, возникающий в результате мутаций генов, и вторичный (приобретенный) в результате чрезмерного потребления или поступления железа с пищей или в составе лекарственных препаратов, заболеваний печени или многократных гемотрансфузий. Отложение избытка железа в паренхиматозных тканях приводит к клеточной дисфункции и клиническим проявлениям заболевания. Чаще всего поражаются печень, поджелудочная железа, суставы, кожа, гипофиз и сердце. Гемохроматоз сердца в ряде случаев приводит к развитию сердечной недостаточности, которую потенциально возможно предотвратить. Первоначально развивается диастолическая дисфункция и нарушения ритма, на более поздних стадиях — картина дилатационной кардиомиопатии. Выявить признаки поражения сердца при гемохроматозе можно с помощью комплексной 2D- и допплеровской эхокардиографии, МРТ сердца с измерением времени релаксации Т2* и других диагностических методов. «Золотым стандартом» диагностики первичного гемохроматоза является генетическое тестирование, которое должно проводиться всем пациентам с подозрением на данную патологию после исключения вторичных причин перегрузки железом. Основу терапии гемохроматоза составляют лечебная флеботомия и хелатирование железа. Средняя продолжительность жизни у нелеченых пациентов с гемохроматозом и тяжелой сердечной недостаточностью не превышает одного года. Однако при раннем и агрессивном лечении выживаемость приближается к таковой у пациентов с сердечной недостаточностью другой этиологии.

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