Abstract
Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the intrahepatic biliary tree. The phenotype consists of numerous cysts spread throughout the liver parenchyma. Cystic bile duct malformations originating from the peripheral biliary tree are called Von Meyenburg complexes (VMC). In these patients embryonic remnants develop into small hepatic cysts and usually remain silent during life. Symptomatic PLD occurs mainly in the context of isolated polycystic liver disease (PCLD) and autosomal dominant polycystic kidney disease (ADPKD). In advanced stages, PCLD and ADPKD patients have massively enlarged livers which cause a spectrum of clinical features and complications. Major complaints include abdominal pain, abdominal distension and atypical symptoms because of voluminous cysts resulting in compression of adjacent tissue or failure of the affected organ. Renal failure due to polycystic kidneys and non-renal extra-hepatic features are common in ADPKD in contrast to VMC and PCLD. In general, liver function remains prolonged preserved in PLD. Ultrasonography is the first instrument to assess liver phenotype. Indeed, PCLD and ADPKD diagnostic criteria rely on detection of hepatorenal cystogenesis, and secondly a positive family history compatible with an autosomal dominant inheritance pattern. Ambiguous imaging or screening may be assisted by genetic counseling and molecular diagnostics. Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis. Genetic studies showed that accumulation of somatic hits in cyst epithelium determine the rate-limiting step for cyst formation. Management of adult PLD is based on liver phenotype, severity of clinical features and quality of life. Conservative treatment is recommended for the majority of PLD patients. The primary aim is to halt cyst growth to allow abdominal decompression and ameliorate symptoms. Invasive procedures are required in a selective patient group with advanced PCLD, ADPKD or liver failure. Pharmacological therapy by somatostatin analogues lead to beneficial outcome of PLD in terms of symptom relief and liver volume reduction.
Highlights
Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the intrahepatic biliary tree
Disease name Polycystic liver disease (PLD) is a collection of rare human disorders that result from structural changes in the biliary tree development [1,2]
Genetic counseling is recommended in severely affected PLD and Polycystic liver disease (PCLD)
Summary
Translocation protein SEC63 homolog; Polycystin-2 (TRPP2); primary cilium, tight junction, extracellular matrix, ER. Current diagnostic criteria in PCLD and ADPKD rely on the age-related cystic liver phenotype with a positive family history of autosomal dominant inheritance (Figure 2). Genetic counseling has an important role in symptomatic individuals with a positive family history for hepatic and/or renal cystogenesis in order to differentiate PLD and clinical management. Similar as in general population for AAA [81]: 1-time screening with abdominal ultrasonography [81] This scheme indicates distinct factors that are related to physical health and disease progression in PCLD and ADPKD patients. These clinical elements listed per organ may be valuable for consideration in management. A recent metaanalysis reported that somatostatin analogues is effective in young females [88]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
