von Kempis J
Division of Rheumatology, Clinical Immunology and Rehabilitation, Department of Internal Medicine, Kantonsspital, St. Gallen, Switzerland.
Curr Opin Rheumatol. 2001 Jan;13(1):80-3. doi: 10.1097/00002281-200101000-00013.
Arthropathy is one of the leading clinical manifestations of hereditary hemochromatosis (HH). Although cirrhosis of the liver is crucial for mortality in patients with HH, arthropathy has the greatest impact on the quality of life. Several mutations in the HFE and other genes have recently been identified, and the prevalence of some of these mutations has already been investigated in population studies in greater detail. Even though cofactors other than genetic predisposition may play a role in the establishment of the disease, the new understanding of the genetic background of this iron storage disorder may help in identifying patients before the onset of clinical symptoms. Early initiation of iron depletion therapy, not effective in established arthropathy of HH, might prevent the manifestation of arthropathy or reduce its severity.
关节病是遗传性血色素沉着症（HH）的主要临床表现之一。虽然肝脏肝硬化对HH患者的死亡率至关重要，但关节病对生活质量的影响最大。最近已鉴定出HFE和其他基因中的几种突变，并且在人群研究中已经更详细地研究了其中一些突变的患病率。尽管除了遗传易感性之外的其他辅助因素可能在疾病的发生中起作用，但对这种铁储存障碍的遗传背景的新认识可能有助于在临床症状出现之前识别患者。在已确诊的HH关节病中无效的铁消耗疗法的早期启动可能会预防关节病的表现或降低其严重程度。
