Polycystic Liver Disease

Polycystic liver disease (PLD) is a rare genetic disorder characterized by mutations in genes encoding for proteins involved in the transport of fluid and growth of epithelial cells in the liver (see Image. Polycystic Liver Disease). These mutations lead to the replacement of normal liver tissue with fluid-filled liver cysts. There are two distinct forms of PLD; PLD in isolation and PLD in association with polycystic kidney disease (PKD). The majority of patients with PLD are asymptomatic and diagnosed incidentally on imaging. However, in a small percentage of patients, hepatomegaly can lead to abdominal pain, distension, and compression of adjacent organs, potentially affecting the quality of life. PLD is diagnosable using ultrasonography, computed tomography (CT) scan, or magnetic resonance imaging (MRI). For the patient with symptomatic PLD, the main goal is to decrease liver volume. There are currently several surgical options available, including cyst fenestration, hepatic resection, and liver transplant. There are also medical therapies now under investigation. This activity discusses the diagnosis and management of PLD.