Isolated Polycystic Liver Disease: A Rare Genetic Disorder

Cureus. 2021 Oct 7;13(10):e18560. doi: 10.7759/cureus.18560. eCollection 2021 Oct.

Abstract

Polycystic liver disease is a rare clinical condition that causes portal hypertension. It constitutes a group of disorders with liver lesions resulting from abnormal development of the embryological ductal system. Isolated polycystic disease with the absence of polycystic kidney disease is considered a rare condition. We present the case of a 46-year-old man who presented with epigastric pain and episodes of hematemesis. Abdominal examination revealed enlarged liver. He underwent a computed tomography scan that revealed innumerable cystic liver lesions with the presence of ascites. Further investigations confirmed abnormal liver functions and portal hypertension. Physicians need to consider this diagnosis in the appropriate clinical settings. Extensive involvement of the liver may lead to persistent severe symptoms requiring liver transplantation.

Keywords: abdominal pain; case report; genetic disorder; hematemesis; polycystic liver disease.

Publication types

  • Case Reports
  • Retracted Publication