The Detection of PNPLA3 Gene in Non Alcoholic Fatty Liver Disease Among Egyptian Patients

Abstract

Introduction: Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of liver diseases with key stages consisting of hepatic steatosis , steatohepatitis (NASH), fibrosis, and eventual cirrhosis. NAFLD affects more than 20% of population worldwide. Imaging studies and laboratory tests do not reliably differentiate patients with NAFLD from those with NASH, or predict the severity of liver disease. Aims: To estimate the prevalence of PNPLA3 gene in Egyptian patient with NAFLD and its relation to degree of hepatic affection. Methodology: This study was conducted on 80 subjects they were subjected to full history taking and thorough physical examination, full anthropometric measurements, laboratory studies. The study was conducted at the gastroenterology and hepatology outpatient clinic of Helwan University Hospital (Badr Hospital) and Ain shams University Hospital. Results: The patients were divided into 3 subgroups: Group 1 included patients with simple steatosis, Group 2 included patients with NASH and Group 3 included 10 age-matched healthy subjects as a control . PNPLA3 gene was detected in all groups Concluded: There is an association between PNPLA3 gene with the incidence of NAFLD and progression to NASH in the Egyptian patients. Recommendations: This study must be done in a wide scale of patients to estimate the prevalence of PNPLA3 gene in the Egyptian patients. PNPLA3 can be added to the diagnostic panel and scoring systems in NAFLD to differentiate simple steatosis from NASH Keywords: Detection of PNPLA3 Gene, Non Alcoholic, Fatty Liver Disease, Egyptian Patients