Clinical management of polycystic liver disease

Abstract

In this Grand Rounds article, we present a typical case of a woman with polycystic liver disease. This case prompts questions which both patients and clinicians may face in clinical practice. This article aims to provide guidance to clinicians caring for patients with polycystic liver disease, in relation to key recent developments in the field. We discuss the latest advances in our understanding of pathophysiology, the natural course of disease, complications, as well as existing and potential new treatment options.

Management of portal hypertension and ascites in polycystic liver disease

“…Beta blockers are the cornerstone of treatment of portal hypertension, however, there is no literature that documents the benefit of propranolol or carvedilol in context of PLD . Somatostatin analogues (SSA), such as octreotide or lanreotide, also reduce hepatic blood flow and portal pressure and are often used in PLD patients because of the ability to reduce liver volume . However, the reported effects on lowering portal pressure have been variable with a majority of studies in general cirrhotic patients reporting little to no effect .…”

“…Polycystic liver disease (PLD) is characterized by the presence of numerous fluid‐filled cysts in the liver. PLD occurs in two distinct genetic disorders, associated with autosomal dominant polycystic kidney disease (ADPKD) or in absence of renal cysts as autosomal dominant polycystic liver disease (ADPLD) . PLD is a hereditary condition that results in progressive hepatomegaly in a proportion of patients with subsequent displacement of adjacent organs and symptoms such as pain, dyspnoea, early satiety, hepatic cyst infections and the development of portal hypertension .…”

“…PLD occurs in two distinct genetic disorders, associated with autosomal dominant polycystic kidney disease (ADPKD) or in absence of renal cysts as autosomal dominant polycystic liver disease (ADPLD) . PLD is a hereditary condition that results in progressive hepatomegaly in a proportion of patients with subsequent displacement of adjacent organs and symptoms such as pain, dyspnoea, early satiety, hepatic cyst infections and the development of portal hypertension . Disease severity is classified as mild when height‐adjusted liver volume (hTLV) is below 1600 mL/m, moderate between 1600 and 3200 mL/m, and severe above 3200 mL/m .…”

“…Finally, cyst rupture, a very rare complication of PLD, can also be the cause of transient ascites and is often accompanied by severe abdominal pain …”

Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry

“…Up to 94% of ADPKD patients over 35 years of age possess hepatic cysts . Liver cysts follow the onset of renal cysts and may result in polycystic liver disease (PLD), defined as the presence of more than 10 liver cysts . This clinical picture of ADPKD with PLD needs to be distinguished from autosomal‐dominant polycystic liver disease (ADPLD), where patients develop PLD in the absence of a renal phenotype.…”