Hereditary haemochromatosis (HH) is an autosomal recessive genetic disease which increased intestinal absorption of iron due to gene mutation. Hereditary haemochromatosis may cause the accumulation of iron in tissues and sometimes lead to organ damage, liver is the major organ affected by HH. The most common type of HH is HFE related HH and non-HFE associated haemochromatosis is rare. Symptoms and signs are initially non-specific, so the disease is often diagnosed at a late stage when substantial organ damage has already occurred. The most common clinical complications of HH include cirrhosis, diabetes, hyperpigmentation of the skin, and hepatocellular carcinoma. Liver biopsy should be performed in patients with HH if the liver enzymes are elevated or serum ferritin is higher than 1000 μg/L. This is useful to determine the degree of iron overload and the stage of fibrosis. This review summarised the clinical presentation and pathological diagnosis, including histological changes caused by iron deposition, measurement of the hepatic iron concentration and changes after treatment.%原发性血色病（hereditary haemochromatosis，HH）是一种常染色体隐性遗传病，由于基因突变导致小肠铁吸收增加，进而使铁在组织内沉积，导致组织损伤，肝脏是受影响的主要器官。最常见的类型是HFE相关原发性血色病，非HFE相关原发性血色病较少见。HH最初的临床表现是非特异性的，临床诊断时多是晚期，常见的临床并发症包括肝硬化、糖尿病、皮肤色素沉着和肝细胞癌等。当HH患者肝功能异常或血清铁蛋白高于1000μg/L时应进行肝组织活检，这有助于鉴定铁沉积的程度和纤维化分期。本文对HH的临床表现和病理诊断进行综述，包括铁沉积引起的组织学改变、肝铁浓度测量和治疗后病理改变。
展开▼
