遗传性血色素沉着症踝关节病概述。

Overview of Ankle Arthropathy in Hereditary Hemochromatosis.

机构信息

Orthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.

出版信息

Med Sci (Basel). 2023 Aug 15;11(3):51. doi: 10.3390/medsci11030051.

Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and mainly involves the metacarpophalangeal and ankle joints, and more rarely, the hip and knee. Symptoms in ankle joints are in most cases non-specific, and they can range from pain and swelling of the ankle to deformities and joint destruction. Furthermore, the main radiological signs do not differ from those of primary osteoarthritis (OA). Limited data are available in the literature regarding treatment; surgery seems to be the gold standard for ankle arthropathy in HH. Pharmacological treatments used to maintain iron homeostasis can also be undertaken to prevent the arthropathy, but conclusive data are not yet available. This review aimed to assess the ankle arthropathy in the context of HH, including all its aspects: epidemiology, physiopathology, clinical and imaging presentation, and all the treatments available to the current state of knowledge.

摘要

遗传性血色素沉着症(HH)是一种常染色体隐性出血性疾病,其特征是组织中铁过载。HH 的临床系统表现包括肝脏疾病、心肌病、皮肤色素沉着、糖尿病、勃起功能障碍、甲状腺功能减退和关节炎。关节痛性关节炎在诊断时经常被报道,主要涉及掌指关节和踝关节,更罕见的是髋关节和膝关节。踝关节的症状大多是非特异性的,从踝关节疼痛和肿胀到畸形和关节破坏都有。此外,主要的放射学征象与原发性骨关节炎(OA)没有区别。文献中关于治疗的资料有限;手术似乎是 HH 踝关节关节炎的金标准。用于维持铁平衡的药物治疗也可用于预防关节炎,但目前尚无确凿的数据。本综述旨在评估 HH 中踝关节关节炎的各个方面,包括其流行病学、病理生理学、临床和影像学表现以及所有现有的治疗方法。

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