Polycystic liver disease (PCLD) is a hereditary condition that may arise either in patients with autosomal dominant polycystic kidney disease (ADPKD) or in patients with a different genetic mutation that results solely in autosomal dominant polycystic liver disease.

Epidemiology

75-90% of patients with autosomal dominant polycystic kidney disease have polycystic liver disease. Polycystic liver disease without autosomal dominant polycystic kidney disease has a prevalence of <0.01% ⁷.

Clinical presentation

Most patients are asymptomatic but may occasionally have pain with large cysts. Other uncommon symptoms include abdominal distention, early satiety, and orthopnoea.

Pathology

Polycystic liver disease is characterised by the progressive development of fluid-filled biliary epithelial cysts throughout all segments of the liver.

Genetics

Multiple genes have now been found to be associated with polycystic liver disease; the most important seem to be the PRKSCH and SEC63 genes, both localised to the endoplasmic reticulum ⁸.

Treatment and prognosis

The course of polycystic liver disease is variable but progressive. In patients with autosomal dominant polycystic kidney disease, the number and size of cysts increases with advancing age ¹.

Treatment for symptomatic cysts is usually based on the morphology of the liver cysts. Fenestration is considered a safe and acceptable procedure for patients with a dominant cyst pattern where liver size can be reduced after the cysts collapse. A combination of resection-fenestration is suitable for those with a diffuse cyst pattern where grossly affected segments are resected in combination with fenestration to allow for reduction in liver size ⁴.