Liver Cysts and Polycystic Liver Disease

Genetic Basis

The American College of Medical Genetics recommends that ADPKD and ADPLD are inherited genetic conditions caused by mutations in specific genes (PKD1, PKD2 for ADPKD; PRKCSH, SEC63, GANAB for ADPLD) that are present from conception 1, 3
The genetic mutations are congenital, but cyst formation is progressive, and these conditions follow an autosomal dominant inheritance pattern, meaning one inherits one mutated gene copy from an affected parent (or rarely, it occurs as a de novo mutation) 1

The National Kidney Foundation suggests that family history is critical—if a parent has ADPKD or ADPLD, children have a 50% chance of inheriting the mutation, and genetic testing confirms the diagnosis even before cysts are visible on imaging 1, 5
For patients ≥60 years with positive family history, ≥4 cysts in each kidney confirms ADPKD diagnosis, according to the American College of Physicians 2

The European Association for the Study of the Liver states that liver cysts are present in >80% of ADPKD patients by age 30 years, making them the most frequent extrarenal manifestation 2, 4
Simple hepatic cysts occur in 2.5–18% of the general population and are acquired, not inherited, as reported by the American Gastroenterological Association 4