Lange U, Teichmann J, Dischereit G
Internistische Rheumatologie, Osteologie, Physikalische Medizin, Universität Gießen, Kerckhoff-Klinik, Benekestr. 2-8, 61231, Bad Nauheim, Deutschland,
Orthopade. 2014 Aug;43(8):772-9. doi: 10.1007/s00132-014-2318-y.
The purpose of the study was to perform a molecular genetic analysis and to document clinical aspects in patients with hereditary hemochromatosis.
The study included 33 outpatients (23 males average age 50.6 years and 10 females average age 60.6 years) with a disorder of iron metabolism (transferrin saturation > 75 %) as confirmation of hemochromatosis who were subjected to molecular genetic and clinical analyses.
A homozygous mutation of the hemochromatosis (HFE) gene (C282YY) was detected in 63.6 %, a compound heterozygous mutation (C282Y/H63D) in 30.3% and no mutation of the HFE gene was detected in 6.1 %. The following organ manifestations could be objectified: arthralgia (78.8 %), liver disease (39.9 %), skin hyperpigmentation (30.3 %), osteoporosis (24.2 %), diabetes mellitus (24.2 %) and cardiomyopathy (12.1 %). Comparison between patients with heterozygous and homozygous hemochromatosis revealed the following differences: compound heterozygote patients presented less frequently with osteoarthritis of the metacarpophalangeal (MCP) joints and hands (85.7 %/71.4 % homozygotes vs. 60 %/60 % heterozygotes). Osteoarthritis of the shoulder joints and osteoporosis as well as hypothyroidism were more frequent in compound heterozygote patients, whereas osteoarthritis of the knee and hip joints as well as liver disease were more common in homozygote patients. No differences between both groups were seen with respect to the clinical manifestations of cardiomyopathy and diabetes mellitus.
Prevalent causes of death in hereditary hemochromatosis are heart failure, liver disease (cirrhosis and hepatocellular carcinoma) and portal hypertension. Therefore, an early diagnosis, adequate therapy and genetic screening of family members are of great importance. Medicinal treatment will only effectively prevent deleterious organ involvement and subsequent complications if initiated at an early stage. Furthermore, an overview of the current data is given.
本研究的目的是对遗传性血色素沉着症患者进行分子遗传学分析并记录其临床特征。
本研究纳入了33名门诊患者（23名男性，平均年龄50.6岁；10名女性，平均年龄60.6岁），这些患者铁代谢紊乱（转铁蛋白饱和度>75%），确诊为血色素沉着症，并接受了分子遗传学和临床分析。
检测到63.6%的患者血色素沉着症（HFE）基因存在纯合突变（C282Y），30.3%的患者存在复合杂合突变（C282Y/H63D），6.1%的患者未检测到HFE基因的突变。以下器官表现可以得到证实：关节痛（78.8%）、肝脏疾病（39.9%）、皮肤色素沉着（30.3%）、骨质疏松（24.2%）、糖尿病（24.2%）和心肌病（12.1%）。杂合子和纯合子血色素沉着症患者之间的比较显示出以下差异：复合杂合子患者掌指（MCP）关节和手部骨关节炎的发生率较低（纯合子患者为85.7%/71.4%，杂合子患者为60%/60%）。复合杂合子患者肩关节骨关节炎、骨质疏松以及甲状腺功能减退更为常见，而纯合子患者膝关节和髋关节骨关节炎以及肝脏疾病更为常见。两组在心肌病和糖尿病的临床表现方面未见差异。
遗传性血色素沉着症常见的死亡原因是心力衰竭、肝脏疾病（肝硬化和肝细胞癌）和门静脉高压。因此，早期诊断、适当治疗以及对家庭成员进行基因筛查非常重要。只有在早期开始药物治疗，才能有效预防有害的器官受累及随后的并发症。此外，还给出了当前数据的概述。
