Systematic review: the pathophysiology and management of polycystic liver disease

Abstract

Background: Polycystic liver diseases (PCLD) represent a group of genetic disorders in which cysts occur solely in the liver, or together with renal cysts. Most of the patients with PCLD are asymptomatic, however, in some patients, expansion of liver cysts causes invalidating abdominal symptoms.

Aim: To provide a systemic review on the pathophysiology and management of PCLD.

Methods: A PubMed search was undertaken to identify relevant literature using search terms including polycystic liver disease, pathophysiology, surgical and medical management.

Results: The most common complication in patients with PCLD is extensive hepatomegaly, which may lead to malnutrition and can be lethal. Conservative surgical approaches are only partially effective and do not change the natural course of the disease. Liver transplantation has been successfully performed in PCLD, however, in an era of organ shortage, medical management needs to be evaluated. A better understanding of the pathophysiology and the availability of animal models have already identified promising drugs. Abnormalities in cholangiocyte proliferation/apoptosis and enhanced fluid secretion are key factors in the pathophysiology. It has been demonstrated in rodents and in humans that somatostatin analogues diminish liver volume. The role of the inhibitors of the mammalian target of rapamycin (mTOR) in the management of PCLD is still under investigation.

Conclusions: The exact pathophysiology of polycystic liver disease still remains unclear. In symptomatic patients, none of the currently available surgical options except liver transplantation have been shown to change the natural course of the disease. The use of somatostatin analogues has been shown to diminish liver volume.