Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment

• Published in: Hepatic medicine: evidence and research 2022-10, Vol.14, p.135-161
• Main Authors: Norcia, Luiz Fernando, Watanabe, Erika Mayumi, Filho, Pedro Tadao Hamamoto, Hasimoto, Claudia Nishida, Pelafsky, Leonardo, de Oliveira, Walmar Kerche, Sassaki, Ligia Yukie
• Format: Article
• Language: English
• Subjects: Bile ducts; Cell signaling; Cysts; Development and progression; Diagnosis; Estrogens; Etiology; Genotype & phenotype; Growth factors; hepatomegaly; Hormones; Kidney diseases; Kinases; liver; liver cysts; Liver diseases; Liver transplantation; Mutation; Pathophysiology; Patients; Phenotypes; Polycystic kidney; polycystic liver disease; Proteins; Quality of life; Review; Somatostatin; therapeutics; Transcription factors; Transplantation of organs, tissues, etc
• ISSN: 1179-1535; 1179-1535
• DOI: 10.2147/HMER.S377530

Polycystic liver disease (PLD) is a clinical condition characterized by the presence of more than 10 cysts in the liver. It is a rare disease Of genetic etiology that presents as an isolated disease or assoc\iated with polycystic kidney disease. Ductal plate malformation, ciliary dysfunction, and changes in cell signaling are the main factors involved in its pathogenesis. Most patients with PLD are asymptomatic, but in 2-5% of cases the disease has disabling symptoms and a significant reduction in quality of life. The diagnosis is based on family history of hepatic and/or renal polycystic disease, clinical manifestations, patient age, and polycystic liver phenotype shown on imaging examinations. PLD treatment has evolved considerably in the last decades. Somatostatin analogues hold promise in controlling disease progression, but liver transplantation remains a unique curative treatment modality. Keywords: liver, polycystic liver disease, hepatomegaly, liver cysts, therapeutics