Combined use of Genetic Polymorphisms and Elastographic Techniques in NAFLD: Fact or Fiction?

Abstract

Non-alcoholic fatty liver disease (NAFLD) includes liver diseases ranging from simple steatosis to progressive forms characterized by high rates of complications and mortality, namely fibrosis, cirrhosis and hepatocellular carcinoma. Identification of patients with simple steatosis who will evolve to a more severe liver disease would allow better management of risk factors. Liver biopsy is the gold standard for the staging of NAFLD, however given its invasiveness it is not widely applicable. FibroScan® has emerged as a reliable non-invasive tool for the identification of both hepatic steatosis and fibrosis, by providing two parameters called CAP (controlled attenuation parameter) and LSM (liver stiffness measurement). However, there is no consensus in literature on definite cut-offs, and some drawbacks in differentiating advanced grades of steatosis and diagnosing mild stages of fibrosis and are still present. In addition, some genetic polymorphisms, namely PNPLA3, TM6SF2 and MBOAT7, represent critical determinants in the pathogenesis of liver steatosis and in the progression of liver damage and could be used in this diagnostic setting. Despite data on the role of FibroScan® in the identification of liver steatosis and fibrosis and on the influence of genetic polymorphisms in the onset and progression of liver disease are extensive in the literature, very few studies have explored the role of their combination in NAFLD diagnosis and in the prediction of evolving disease. This emphasizes the need for a great effort in this field in order to improve clinicians' diagnostic ability in everyday practice, avoiding invasive procedures when unnecessary and preventing NAFLD complications.

Keywords: FibroScan®; Genetic polymorphisms; MBOAT7; NAFLD diagnosis; PNPLA3; TM6SF2; risk stratification..