遗传性血色素沉着症中的骨骼和关节受累：肝硬化和铁过载的作用

Bone and joint involvement in genetic hemochromatosis: role of cirrhosis and iron overload.

作者信息

Sinigaglia L, Fargion S, Fracanzani A L, Binelli L, Battafarano N, Varenna M, Piperno A, Fiorelli G

机构信息

G. Pini Institute, University of Milan, Italy.

出版信息

J Rheumatol. 1997 Sep;24(9):1809-13.

PMID:9292808

Abstract

OBJECTIVE

To evaluate the frequency of arthropathy and osteoporosis in genetic hemochromatosis (GH) and to quantify potential risk factors for these 2 conditions.

METHODS

Radiographic evidence of arthropathy was systematically sought in plain radiographs of 32 patients (28 men) with histologically proven GH (17 with hepatic cirrhosis). Bone mineral density was measured by x-ray absorptiometry of L2-L4 and osteoporosis was defined as a T score > or = 2.5 standard deviation below the mean. Potential risk factors investigated were age, body mass index, cirrhosis, alcohol abuse, hepatitis B and C infections, HLA phenotype, serum free testosterone levels, and the amount of iron removed by phlebotomy to reach depletion. The independent role of risk factors for the presence of osteoporosis was tested by multiple logistic regression analysis.

RESULTS

Radiologic signs of arthropathy were observed in 81.3% of cases. Patients with arthropathy were older than patients without (p < 0.001), but did not differ in the frequency of cirrhosis, amount of iron removed, and HLA typing. Osteoporosis was observed in 9 patients and was positively associated with the amount of iron removed and cirrhosis. However, in multivariate analysis, cirrhosis was not independently associated with osteoporosis, but patients with higher iron removed had a greater probability to have osteoporosis [odds ratio (OR) = 3.23 for any increase of 5 g, 95% confidence interval (CI): 1.09-9.58], whereas the presence of HLA-A3 was associated with a reduction of risk (OR 0.013, 95% CI: 0.0015-1.13).

CONCLUSION

These findings indicate the high prevalence of osteoarticular involvement in Italian patients with GH. Neither cirrhosis nor the amount of iron removed was associated with arthropathy. In contrast, in univariate analysis the risk of osteoporosis was significantly increased by liver cirrhosis. With multivariate analysis we found that osteoporosis was highly influenced by the degree of iron overload, playing an independent role in accelerating bone loss in patients with GH.

摘要

目的

评估遗传性血色素沉着症（GH）患者关节病和骨质疏松症的发生率，并量化这两种病症的潜在危险因素。

方法

对32例经组织学证实为GH的患者（28例男性）（其中17例伴有肝硬化）的X线平片进行系统检查，寻找关节病的影像学证据。采用双能X线吸收法测量L2-L4椎体的骨密度，骨质疏松症定义为T值低于均值2.5个标准差或更低。研究的潜在危险因素包括年龄、体重指数、肝硬化、酗酒、乙型和丙型肝炎感染、HLA表型、血清游离睾酮水平以及达到铁耗竭时通过放血去除的铁量。通过多因素logistic回归分析检验危险因素对骨质疏松症发生的独立作用。

结果

81.3%的病例出现关节病的放射学征象。有关节病的患者比无关节病的患者年龄更大（p<0.001），但在肝硬化发生率、去除的铁量和HLA分型方面无差异。9例患者出现骨质疏松症，且与去除的铁量和肝硬化呈正相关。然而，在多因素分析中，肝硬化与骨质疏松症无独立相关性，但去除铁量较高的患者患骨质疏松症的可能性更大[每增加5g的比值比（OR）=3.23，95%置信区间（CI）：1.09-9.58]，而HLA-A3的存在与风险降低相关（OR 0.013，95%CI：0.0015-1.13）。