Keitel Verena, Vom Dahl Stephan, Häussinger Dieter
Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Düsseldorf.
Dtsch Med Wochenschr. 2020 Feb;145(3):140-145. doi: 10.1055/a-0965-9648. Epub 2020 Feb 4.
Secondary causes of fatty liver disease are important to recognize since specific therapy options are available for some of these causes. Common causes of secondary fatty liver disease comprise hepatitis C virus infection (HCV), endocrinological diseases, nutritional and intestinal diseases as well as genetic liver and metabolic diseases. Certain drugs may also predispose to the development of fatty liver disease. Primary fatty liver disease, also known as non-alcoholic fatty liver disease (NAFLD) is defined by the presence of steatosis hepatis without relevant alcohol consumption or other causes of secondary fatty liver disease. NAFLD occurs more frequently in patients with metabolic syndrome and thus can be seen as the hepatic manifestation of the metabolic syndrome.Therefore, presence of features of the metabolic syndrome should be assessed in all patients with fatty liver disease. Furthermore, alcohol consumption should be determined to rule out alcoholic liver disease (ASH). Further diagnostic work up for secondary causes of fatty liver disease should include screening for HCV infection, for hypothyroidism and for drugs associated with steatosis development. In a next step screening for Wilson's disease, hemochromatosis, celiac disease and lipid metabolism disorders should be performed. An extended endocrinological workup and a liver biopsy should be considered if the etiology of fatty liver disease remains unclear.Common genetic polymorphisms have been identified in several genes, such as PNPLA3, TM6SF2 and MBOAT7, which may promote the development and the progression of fatty liver disease irrespective of the underlying etiology (e. g. metabolic syndrome, ASH or HCV). The risk variants in these genes have additive effects on steatosis development and diseases progression towards fibrosis and cirrhosis. The diagnosis of secondary causes of fatty liver disease may allow for therapeutic intervention and prevent disease progression. Accordingly, secondary causes of fatty liver disease should be considered during the diagnostic workup of NAFLD patients.
认识脂肪性肝病的继发性病因很重要，因为其中一些病因有特定的治疗方案。继发性脂肪性肝病的常见病因包括丙型肝炎病毒感染（HCV）、内分泌疾病、营养和肠道疾病以及遗传性肝脏和代谢疾病。某些药物也可能促使脂肪性肝病的发生。原发性脂肪性肝病，也称为非酒精性脂肪性肝病（NAFLD），其定义为存在肝脂肪变性，且无相关饮酒史或其他继发性脂肪性肝病病因。NAFLD在代谢综合征患者中更常见，因此可视为代谢综合征的肝脏表现。因此，所有脂肪性肝病患者均应评估是否存在代谢综合征的特征。此外，应确定饮酒情况以排除酒精性肝病（ASH）。脂肪性肝病继发性病因的进一步诊断检查应包括筛查HCV感染、甲状腺功能减退以及与脂肪变性发展相关的药物。下一步应进行威尔逊病、血色素沉着症、乳糜泻和脂质代谢紊乱的筛查。如果脂肪性肝病的病因仍不清楚，应考虑进行全面的内分泌检查和肝活检。在几个基因中已鉴定出常见的基因多态性，如PNPLA3、TM6SF2和MBOAT7，无论潜在病因（如代谢综合征、ASH或HCV）如何，这些基因多态性都可能促进脂肪性肝病的发展和进展。这些基因中的风险变异对脂肪变性的发展以及疾病向纤维化和肝硬化的进展具有累加效应。脂肪性肝病继发性病因的诊断有助于进行治疗干预并预防疾病进展。因此，在NAFLD患者的诊断检查过程中应考虑脂肪性肝病的继发性病因。
