Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases

Polycystic liver diseases (PLD) represent a group of genetic disorders in which cysts occur in the liver (autosomal dominant polycystic liver disease) or in combination with cysts in the kidneys (autosomal dominant polycystic kidney disease). Regardless of the genetic mutations, the natural history of these disorders is alike. The natural history of PLD is characterized by a continuous increase in the volume and the number of cysts. Both genders are affected; however, women have a higher prevalence. Most patients with PLD are asymptomatic and can be managed conservatively. Severe symptoms can affect 20% of patients who develop massive hepatomegaly with compression of the surrounding organs. Rrarely, patients with PLD suffer from acute complications caused by the torsion of hepatic cysts, intraluminal cystic hemorrhage and infections. The most common methods for the diagnosis of PLD are cross sectional imaging studies. Abdominal ultrasound and computerized tomography are the two most frequently used investigations. Magnetic resonance imaging is more sensitive and specific, and it is a valuable test for patients with intravenous contrast allergies or renal dysfunction. Different treatment modalities are available to physicians caring for these patients. Medical treatment has been ineffective. Percutaneous sclerotherapy, trans-arterial embolization, cyst fenestration, hepatic resection and liver transplantation are indicated to specific groups of patients and have to be tailored according to the extent of disease. This review outlines the current knowledge of the pathophysiology, clinical course, diagnosis and treatment strategies of PLD.