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238 AN IDENTICAL CLINICAL COURSE IN MONOZYGOTIC TWINS WITH NONALCOHOLIC STEATOHEPATITIS - A CASE REPORT SUPPORTING A GENETIC COMPONENT TO THE PATHOGENESIS OF THIS DISEASE AE Faris, L Scully Nonalcoholic fatty liver disease (NAFLD) includes a wide spectrum of disease ranging from simple hepatic steatosis to severe inflammatory activity resulting in nonalcoholic steatohepatitis (NASH). NASH can progress to cirrhosis and even hepatocellular carcinoma. Although the pathogenesis of NASH is not well elucidated, it is associated with features of the metabolic syndrome including insulin resistance, obesity, hyperlipidemia and hypertension. The phenotype of patients with NASH varies widely despite shared risk factors of the metabolic syndrome. This phenotypic variation implies that additional factors including a genetic contribution, are likely important in the progression of this clinical entity.
Ottawa Hospital, Department of Gastroenterology, Ottawa, Ontario
We describe the case of two monozygotic twins who developed identical clinical courses with regard to their diagnosed nonalcoholic steatohepatitis. Both brothers displayed similar features of the metabolic syndrome with obesity, type 2 diabetes mellitus and hyperlipidemia.
The first brother was diagnosed with NASH-cirrhosis in 2001 at the age of 43. He developed ascites in 2005, the same year that his twin was diagnosed with NASH-related cirrhosis and ascites. Both brothers were diagnosed with hepatocellular carcinoma in 2006. The first brother's diagnosis was based on a new liver mass discovered on screening ultrasound, with a CT-abdomen and positive alpha-fetoprotein (701 µg/L) confirming the diagnosis. The second brother's diagnosis was based on a positive alpha-fetoprotein (49 474 µg/L) with multiple imaging modalities not revealing a focal liver lesion (a subsequent autopsy confirmed infiltrative HCC with metastatic hepatocellular carcinoma to lung and brain).
Both individuals died within three weeks of each other in 2006 secondary to hepatorenal syndrome, sepsis and hepatocellular carcinoma.
The striking parallels in their disease courses supports a genetic component to the two hit hypothesis in the pathogenesis of NASH.