Wilsons Disease Presenting as Acute Fulminant Hepatic Failure

Abstract

Wilson’s disease (WD) is a genetic disorder characterised by mutations in copper metabolism. Adenosine triphosphate (ATPase) ATP7B gene is responsible for disturbance in copper metabolism that leads to accumulation of copper mainly in liver and also in extra hepatic organs (like brain, cornea, heart and kidney).1 Heavy metal accumulation in brain (mainly in basal ganglia) leads to neuropsychiatric manifestations.2 Kayser Fleischer (KF) ring is golden brown ring distributed along the periphery of cornea. It is due to abnormal deposition of copper in the Descemet’s membrane of cornea. Kayser Fleischer (KF) ring is a pathognomonic sign of Wilson’s disease. Fulminant hepatic failure can be the first presentation of WD. Patients presenting with fulminant Wilson’s disease (FWD) clinically present as acute liver failure with encephalopathy and coagulopathy. The mortality of patients is high and orthotropic liver transplantation is the only option, which has been shown effective in patients with Fulminant Wilson’s disease.3 We are report a case of a young male who presented as acute liver failure first time in life and later was diagnosed as FWD.