HCC Translational Research Laboratory, Barcelona-Clinic Liver Cancer Group, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Liver Unit, Hospital Clinic, Barcelona, Spain.
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):725-34. doi: 10.1016/j.bpg.2010.07.008.
Inherited liver disorders that cause chronic inflammation, fibrosis, and cirrhosis can lead to the development of liver cancer. Because of the rarity and diversity of some of these syndromes, the relative risk of developing HCC in these patients and the age at which tumours typically arise cannot be accurately estimated. Among patients with hereditary hemachromatosis (HH), the annual incidence of HCC is 4% once cirrhosis has been established. Fibrosis and portal hypertension associated with HH can be partially reversed with therapeutic phlebotomy, but it is unclear whether this treatment alters the incidence of HCC in these patients. Importantly, it seems likely that coincidence of these genetic disorders with known HCC risk factors such as alcoholism and viral hepatitis would amplify their oncogenic potential. For this reason, patients with known genetic disorders of the liver should be repeatedly counselled to avoid environmental and toxic injury to the liver. Treatment of HCC in patients with inherited liver disease mirrors that of HCC associated with other etiologies. Unfortunately, there are case series which suggest these patients with inherited liver disease and HCC tend to present at more advanced stages and are therefore not eligible for curative therapies, causing overall decreased survival relative to patients with HCC of viral or other etiologies.
遗传肝脏疾病引起的慢性炎症、纤维化和肝硬化可导致肝癌的发生。由于这些综合征中的一些具有罕见性和多样性，因此无法准确估计这些患者发生 HCC 的相对风险和肿瘤通常出现的年龄。在遗传性血色素沉着症 (HH) 患者中，一旦发生肝硬化，HCC 的年发病率为 4%。HH 相关的纤维化和门静脉高压症可以通过治疗性放血部分逆转，但尚不清楚这种治疗是否会改变这些患者 HCC 的发病率。重要的是，这些遗传疾病与酒精中毒和病毒性肝炎等已知 HCC 危险因素的巧合似乎会放大其致癌潜力。出于这个原因，应反复向已知遗传肝脏疾病的患者提供咨询，以避免环境和肝脏毒性损伤。遗传性肝病患者的 HCC 治疗与其他病因引起的 HCC 治疗相似。不幸的是，有一些病例系列表明，这些患有遗传性肝病和 HCC 的患者往往处于更晚期，因此不符合治愈性治疗的条件，导致与病毒性或其他病因引起的 HCC 患者相比，总体生存率降低。
