Inês L S, da Silva J A, Malcata A B, Porto A L
Department of Internal Medicine and Rheumatology, Coimbra University Hospital, Coimbra, Portugal.
Clin Exp Rheumatol. 2001 Jan-Feb;19(1):98-102.
Genetic hemochromatosis is not a rare disease and represents a frequently underestimated cause of arthropathy. Joint involvement is one of the most frequent manifestations of the disease and presents typical clinical and radiological features that strongly suggest the diagnosis. Joint complaints are often the first clinical manifestation of GH. Their identification may be crucial to establish the diagnosis in the pre-cirrhotic phase and to institute appropriate therapy to prevent organ damage and associated mortality. Recent identification of the genetic defect responsible for the disease is leading to new insights into the pathogenesis of GH and the associated arthropathy.
遗传性血色素沉着症并非罕见疾病，是一种常被低估的关节病病因。关节受累是该疾病最常见的表现之一，具有典型的临床和放射学特征，强烈提示诊断。关节症状往往是遗传性血色素沉着症的首发临床表现。识别这些症状对于在肝硬化前期确立诊断以及采取适当治疗以预防器官损害和相关死亡率可能至关重要。最近对导致该疾病的基因缺陷的识别，为深入了解遗传性血色素沉着症及其相关关节病的发病机制带来了新的见解。
