Beaton Melanie D, Adams Paul C
Department of Gastroenterology, University of Western Ontario, London, Ontario.
Can J Gastroenterol. 2006 Apr;20(4):257-60. doi: 10.1155/2006/428048.
The survival of treated, noncirrhotic patients with hereditary hemochromatosis is similar to that of the general population. Less is known about the outcome of cirrhotic hereditary hemochromatosis patients. The present study evaluated the survival of patients with hereditary hemochromatosis and cirrhosis.
From an established hereditary hemochromatosis database, all cirrhotic patients diagnosed from January 1972 to August 2004 were identified. Factors associated with survival were determined using univariate and multivariate regression. Survival differences were assessed using the Kaplan-Meier life table method.
Ninety-five patients were identified. Sixty patients had genetic testing, 52 patients (87%) were C282Y homozygotes. Median follow-up was 9.2 years (range 0 to 30 years). Nineteen patients (20%) developed hepatocellular carcinoma, one of whom was still living following transplantation. Cumulative survival for all patients was 88% at one year, 69% at five years and 56% at 20 years. Factors associated with death on multivariate analysis included advanced Child-Pugh score and hepatocellular carcinoma. Patients with hepatocellular carcinoma were older at the time of diagnosis of cirrhosis (mean age 61 and 54.6 years, respectively; P=0.03). The mean age at the time of diagnosis of hepatocellular carcinoma was 70 years (range 48 to 79 years). No other differences were found between the groups.
Patients with hereditary hemochromatosis and cirrhosis are at significant risk of developing hepatocellular carcinoma. These patients are older when diagnosed with carcinoma and may have poorer survival following transplantation than patients with other causes of liver disease. Early diagnosis and treatment of hereditary hemochromatosis by preventing the development of cirrhosis may reduce the incidence of hepatocellular carcinoma in the future.
经治疗的非肝硬化遗传性血色素沉着症患者的生存率与普通人群相似。关于肝硬化遗传性血色素沉着症患者的预后了解较少。本研究评估了遗传性血色素沉着症合并肝硬化患者的生存率。
从一个已建立的遗传性血色素沉着症数据库中，识别出1972年1月至2004年8月期间诊断出的所有肝硬化患者。使用单因素和多因素回归确定与生存相关的因素。使用Kaplan-Meier生存表法评估生存差异。
共识别出95例患者。60例患者进行了基因检测，52例患者（87%）为C282Y纯合子。中位随访时间为9.2年（范围0至30年）。19例患者（20%）发生肝细胞癌，其中1例在移植后仍存活。所有患者的1年累积生存率为88%，5年为69%，20年为56%。多因素分析中与死亡相关的因素包括Child-Pugh评分晚期和肝细胞癌。肝细胞癌患者在肝硬化诊断时年龄较大（平均年龄分别为61岁和54.6岁；P=0.03）。肝细胞癌诊断时的平均年龄为70岁（范围48至79岁）。两组之间未发现其他差异。
遗传性血色素沉着症合并肝硬化患者发生肝细胞癌的风险显著。这些患者在诊断为癌症时年龄较大，移植后的生存率可能比其他肝病原因的患者更差。通过预防肝硬化的发生对遗传性血色素沉着症进行早期诊断和治疗，可能会降低未来肝细胞癌的发病率。
