中国遗传性血色病诊疗指南

Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis

遗传性血色病(HH)是由于铁调节相关基因变异所引起的铁过载性疾病,因大量的铁沉积在肝脏、心脏、皮肤、胰腺及性腺等器官并导致相应的多系统损害。HH在欧美人群相对常见,主要由HFE基因突变引起;在中国和其他亚洲国家罕见,主要由非HEF基因突变引起。其临床特征是原因不明的慢性肝炎或肝硬化,伴有血清铁蛋白升高和/或转铁蛋白饱和度升高,MRI显示肝脏铁沉积,肝活检显示肝细胞铁沉积,基因检测有助于确诊HH。放血治疗是治疗HH的首选疗法,对于不能耐受者可采用铁螯合剂治疗,发展至终末期肝病者需行肝移植。为帮助临床医师在HH的诊治中做出合理决策,中华医学会肝病学分会组织临床、分子遗传学、病理学、影像学和临床研究方法学等领域的专家,系统总结了国内外有关研究进展,共同制订了本指南。

Hereditary hemochromatosis is an iron overload disease caused by mutations in iron-regulating genes,resulting in excessive iron deposition in organs such as the liver,heart,skin,pancreas,and gonads,leading to corresponding multi-system damage.This condition is relatively common in European and American populations,primarily caused by mutations in the HFE gene;however,it is rare in China and other Asian countries,almost exclusively due to mutations in non-HFE genes.Clinical features include unexplained chronic hepatitis or cirrhosis,accompanied by elevated serum ferritin and/or increased transferrin saturation.MRI shows iron deposition in the liver,liver biopsy reveals iron accumulation in hepatocytes,and genetic testing facilitate the diagnosis of this disease.Repeated phlebotomy is the first-line therapy for this condition.For those who cannot tolerate phlebotomy,iron chelation therapy may be used,and patients who progress to end-stage liver disease will require liver transplantation.To assist clinicians in making informed decisions on the diagnosis and treatment of hereditary hemochromatosis,the Chinese Society of Hepatology,Chinese Medical Association has invited experts from clinical medicine,molecular genetics,pathology,imaging,and methodology to systematically summarize the advancement in this field and collaboratively develop the current guidelines.