Aellen P, Guerne P A, Zenagui D, Vischer T L
Département de médecine, Hôpital cantonal universitaire, Genève.
Schweiz Med Wochenschr. 1992 May 30;122(22):842-9.
Idiopathic hemochromatosis is a recessive autosomal disorder of iron metabolism manifested by a tissue overload affecting many organs, including the liver, the heart, the endocrine glands and the joints. Of 53 patients we studied, 66% had articular symptoms (mainly arthralgias of the metacarpophalangeal joints) and 49% had radiological lesions such as chondrocalcinosis and structural joint damage. The radiological signs were slightly more frequent in women (56.3%) than men (45.9%). Mean age at diagnosis was moderately higher in the group with arthropathy (52 years) than in the group without (44 years). Analysis of clinical, radiological and biological data, including parathormone values, did not reveal other parameters differentiating the two groups. A family study does not support the hypothesis of double heredity for hemochromatosis and arthropathy. In 20% of the patients the arthropathy was the inaugural feature of the hemochromatosis. The interval between first symptoms and diagnosis for these patients (5.3 years on average) is unfortunately long. Determination of transferrin saturation allows early diagnosis.
特发性血色素沉着症是一种常染色体隐性遗传性铁代谢紊乱疾病，表现为包括肝脏、心脏、内分泌腺和关节在内的多个器官组织铁过载。在我们研究的53例患者中，66%有关节症状（主要是掌指关节疼痛），49%有放射学损伤，如软骨钙质沉着和关节结构破坏。放射学征象在女性（56.3%）中比男性（45.9%）略为常见。有关节病组的诊断平均年龄（52岁）略高于无关节病组（44岁）。对包括甲状旁腺激素值在内的临床、放射学和生物学数据进行分析，未发现区分两组的其他参数。一项家族研究不支持血色素沉着症和关节病双重遗传的假说。20%的患者关节病是血色素沉着症的首发特征。不幸的是，这些患者从首次出现症状到诊断的间隔时间（平均5.3年）很长。测定转铁蛋白饱和度可实现早期诊断。
