avkАрхивъ внутренней медициныThe Russian Archives of Internal Medicine2226-67042411-6564“SINAPS” LLC10.20514/2226-6704-2024-14-6-442-456ERQADOavk-1880Research ArticleОБЗОРНЫЕ СТАТЬИREVIEW ARTICLESГемохроматоз и поражение сердцаHemochromatosis and Heart Involvementhttps://orcid.org/0000-0001-7479-418XРезникЕ. В.ReznikE. V.

Елена Владимировна Резник, д. м. н., доцент, заведующий кафедрой, врач-кардиолог, терапевт, врач функциональной диагностики

лечебный факультет / Институт клинической медицины; кафедра пропедевтики внутренних болезней

Москва

Elena V. Reznik, MD, Head of the Department, Cardiologist

medical faculty/Institution of Clinical Medicine; Department of Propedeutics of Internal Diseases

Moscow

elenaresnik@gmail.comhttps://orcid.org/0009-0000-8300-6616ЛауарМ.Х. Э.LaouarM.H. E.

Мохамед Хусем Эддин Лауар, аспирант

лечебный факультет / Институт клинической медицины; кафедра пропедевтики внутренних болезней 

Москва

Laouar Mohamed Houcem Eddine, PhD student

medical faculty; Department of Propaedeutics of Internal Diseases

Moscow

houssemlaouar23@gmail.comhttps://orcid.org/0000-0001-8491-0228ВоиноваВ. Ю.VoinovaV. Yu.

Виктория Юрьевна Воинова, д. м. н., заведующая отделом, заведующая кафедрой

Научно-исследовательский клинический институтпедиатрии и детской хирургии имени академика Ю.Е. Вельтищева; отдел клинической генетики; Медико-биологический факультет; кафедра общей и медицинской генетики

Москва

Victoria Y. Voinova, MD, PhD, Head of the Department

Research Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution; Department of Clinical Genetics; Faculty of Medical Biology, Federal State Autonomous Educational Institution of Higher Education; Department of General and Medical Genetics

Moscow

vivoinova@yandex.ruhttps://orcid.org/0000-0002-0161-005XГолуховГ. Н.GolukhovG. N.

Георгий Натанович Голухов, президент ГБУЗ, заместитель председателя Общественного совета при Департаменте здравоохранения города Москвы

Москва

Georgy N. Golukhov, President of the GBUZ, Deputy Chairman of the Public Council under the Department of Health of the City of Moscow

Moscow

Федеральное государственное автономное образовательное учреждение Российский национальный исследовательский медицинский университет имени Н.И. Пирогова Министерства здравоохранения РФ; Государственное бюджетное учреждение здравоохранения Городская клиническая больница № 31 им. Акад. Г.М. Савельевой Департамента Здравоохранения МосквыРоссияPirogov Russian national research medical University of the Ministry of healthcare of the Russian Federation; GBUZ «City Clinical Hospital № 31» named after. Academician G.M. Savelyeva of Healthcare Department of MoscowRussian FederationФедеральное государственное автономное образовательное учреждение Российский национальный исследовательский медицинский университет имени Н.И. Пирогова Министерства здравоохранения РФРоссияPirogov Russian national research medical University of the Ministry of healthcare of the Russian FederationRussian Federation202427112024146442456Copyright © Резник Е.В., Лауар М.Э., Воинова В.Ю., Голухов Г.Н., 20242024Резник Е.В., Лауар М.Э., Воинова В.Ю., Голухов Г.Н.Reznik E.V., Laouar M.E., Voinova V.Y., Golukhov G.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medarhive.ru/jour/article/view/1880

   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.

   Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron from food or drugs, liver diseases or repeated blood transfusions. Deposition of excess iron in parenchymal tissues leads to cellular dysfunction and clinical manifestations of the disease. The liver, pancreas, joints, skin, pituitary gland and heart are most often affected. Cardiac hemochromatosis is an important and potentially preventable cause of heart failure. Initially, diastolic dysfunction and arrhythmias develop, at later stages a picture of dilated cardiomyopathy can appear. Signs of heart damage in hemochromatosis can be detected using complex 2D and Doppler echocardiography, cardiac MRI with T2* relaxation time measurement and other diagnostic methods. Genetic testing is the gold standard for diagnosing hemochromatosis and should be performed after secondary causes of iron overload have been excluded. The basis of therapy is therapeutic phlebotomy and iron chelation. Median survival is less than a year in untreated patients with severe heart failure caused by hemochromatosis. However, with early and aggressive treatment, survival approaches that of patients with heart failure of other etiologies.

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The authors declare that there are no conflicts of interest present.