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遗传性血色素沉着症:心脏方面的视角

Hereditary Hemochromatosis: A Cardiac Perspective.

作者信息

Joshi Pranay K, Patel Saawan C, Shreya Devarashetty, Zamora Diana I, Patel Gautami S, Grossmann Idan, Rodriguez Kevin, Soni Mridul, Sange Ibrahim

机构信息

Internal Medicine, B.J. Medical College, Ahmedabad, IND.

Internal Medicine, Pramukhswami Medical College, Karamsad, IND.

出版信息

Cureus. 2021 Nov 29;13(11):e20009. doi: 10.7759/cureus.20009. eCollection 2021 Nov.

Abstract

Hereditary hemochromatosis (HH) is a common genetic metabolic disorder characterized by excessive iron absorption and elevated serum iron levels, which accumulate in various organs, such as the heart, pancreas, gonads, and damage these organs. There are only a few articles and clinical studies describing the characteristics of cardiac involvement in HH along with the significance of early diagnosis and management in preventing complications. In this review article, we have reviewed multiple pieces of literature and gathered available information regarding the subject. We compiled the data to investigate the importance of early detection of symptoms, regular monitoring, and prompt management with strict adherence to reverse or prevent complications. This article has reviewed different aspects of cardiac hemochromatosis, such as pathogenesis, clinical presentation, diagnosis, and management. Recognition of early symptoms, diagnosis of cardiac involvement with various modalities, and implementation of early treatment are essentially the foundation of better outcomes in HH.

摘要

遗传性血色素沉着症(HH)是一种常见的遗传性代谢紊乱疾病,其特征是铁吸收过多和血清铁水平升高,这些铁会在心脏、胰腺、性腺等各种器官中蓄积,并损害这些器官。仅有少数文章和临床研究描述了HH中心脏受累的特征以及早期诊断和管理在预防并发症方面的意义。在这篇综述文章中,我们查阅了多篇文献并收集了有关该主题的可用信息。我们汇总数据以研究早期发现症状、定期监测以及严格坚持逆转或预防并发症的及时管理的重要性。本文综述了心脏血色素沉着症的不同方面,如发病机制、临床表现、诊断和管理。识别早期症状、采用各种方式诊断心脏受累以及实施早期治疗本质上是HH取得更好治疗效果的基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba1/8716004/82d397d82186/cureus-0013-00000020009-i01.jpg

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