Polycystic liver disease
Citation, DOI, disclosures and article data
At the time the article was created Yuranga Weerakkody had no recorded disclosures.
View Yuranga Weerakkody's current disclosuresAt the time the article was last revised Mostafa Elfeky had no financial relationships to ineligible companies to disclose.
View Mostafa Elfeky's current disclosures- Polycystic liver
- Polycystic liver disease (PLD)
- Adult polycystic liver disease
- Adult polycystic liver disease (APLD)
- Polycystic liver disease (PCLD)
- Autosomal dominant polycystic liver disease
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.
On this page:
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 orthopnea.
Pathology
Polycystic liver disease is characterized 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 localized 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.
References
- 1. Morgan DE, Lockhart ME, Canon CL et-al. Polycystic liver disease: multimodality imaging for complications and transplant evaluation. Radiographics. 26 (6): 1655-68. doi:10.1148/rg.266065013 - Pubmed citation
- 2. Santiago I, Loureiro R, Curvo-semedo L et-al. Congenital cystic lesions of the biliary tree. AJR Am J Roentgenol. 2012;198 (4): 825-35. doi:10.2214/AJR.11.7294 - Pubmed citation
- 3. Gigot JF, Jadoul P, Que F et-al. Adult polycystic liver disease: is fenestration the most adequate operation for long-term management? Ann. Surg. 1997;225 (3): 286-94. Ann. Surg. (link) - Free text at pubmed - Pubmed citation
- 4. Tan YM, Ooi LL. Highly symptomatic adult polycystic liver disease: options and results of surgical management. ANZ J Surg. 2004;74 (8): 653-7. doi:10.1111/j.1445-1433.2004.03112.x - Pubmed citation
- 5. Itai Y, Ebihara R, Eguchi N et-al. Hepatobiliary cysts in patients with autosomal dominant polycystic kidney disease: prevalence and CT findings. AJR Am J Roentgenol. 1995;164 (2): 339-42. AJR Am J Roentgenol (citation) - Pubmed citation
- 6. Brancatelli G, Federle MP, Vilgrain V et-al. Fibropolycystic liver disease: CT and MR imaging findings. Radiographics. 25 (3): 659-70. doi:10.1148/rg.253045114 - Pubmed citation
- 7. Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. (2014) Orphanet journal of rare diseases. 9: 69. doi:10.1186/1750-1172-9-69 - Pubmed
- 8. Norcia L, Watanabe E, Hamamoto Filho P et al. Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment. Hepat Med. 2022;14:135-61. doi:10.2147/HMER.S377530 - Pubmed
Incoming Links
- Autosomal-dominant polycystic disease
- Autosomal dominant polycystic kidney disease
- Metastatic rectosigmoid cancer with polycystic kidney and liver disease
- Autosomal dominant hepato-renal polycystic disease (ADHRPD)
- Biliary hamartoma
- Autosomal dominant polycystic kidney disease
- Polycystic liver and kidney disease
- Polycystic liver disease
- Autosomal dominant polycystic kidney disease
- Polycystic kidney disease
- Polycystic liver disease
- Autosomal dominant polycystic kidney disease
- Polycystic liver
Related articles: Pathology: Hepato-Pancreato-Biliary
- liver
- depositional disorders
- infection and inflammation
- liver abscess
- hepatic hydatid infection
- cirrhosis
- hepatitis
- cholecystitis
- cholangitis
- malignancy
- liver and intrahepatic bile duct tumors
- benign epithelial tumors
- hepatocellular hyperplasia
- hepatocellular adenoma
- hepatic/biliary cysts
- benign nonepithelial tumors
- primary malignant epithelial tumors
- hepatocellular carcinoma
- hepatocellular carcinoma variants
-
cholangiocarcinoma
- intra-hepatic
- mass-forming type
- periductal infiltrating type - Klatskin tumors
- intraductal growing type
- extra-hepatic/large duct type
- intra-hepatic
- biliary cystadenocarcinoma
- combined hepatocellular and cholangiocarcinoma
- hepatoblastoma
- undifferentiated carcinoma
- primary malignant nonepithelial tumors
- hematopoietic and lymphoid tumors
- primary hepatic lymphoma
- hepatic myeloid sarcoma (hepatic chloroma)
- secondary tumors
- miscellaneous
- adrenal rest tumors
- hepatic carcinosarcoma
- hepatic fibroma
- hepatic hemangioma
- hepatic Kaposi sarcoma
- hepatic lipoma
- hepatic mesenchymal hamartoma
- hepatic myxoma
- hepatic rhabdoid tumor
- hepatic solitary fibrous tumor
- hepatic teratoma
- hepatic yolk sac tumor
- inflammatory myofibroblastic tumor (inflammatory pseudotumor)
- nodular regenerative hyperplasia
- pancreatic rest tumors
- primary hepatic carcinoid
- benign epithelial tumors
- liver and intrahepatic bile duct tumors
- metabolic
- trauma
-
vascular and perfusion disorders
- portal vein related
- hepatic artery related
- hepatic veins related
- inferior vena cava related
- other
- third inflow
- liver thrombotic angiitis
- infra diaphragmatic total anomalous pulmonary venous return (TAPVR)
- hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)
- pancreas
-
pancreatic neoplasms
- cystic neoplasm (cystic pancreatic mass differential diagnosis)
- solid neoplasm
- non-epithelial pancreatic neoplasms
- others
- simple pancreatic cyst
-
pancreatitis (mnemonic for the causes)
- acute pancreatitis
- chronic pancreatitis
- Ascaris-induced pancreatitis
- tropical pancreatitis
- autoimmune pancreatitis
- emphysematous pancreatitis
- hypertriglyceridemia-induced pancreatitis
- hereditary pancreatitis
- pancreatitis associated with cystic fibrosis
- pancreaticopleural fistula
- segmental pancreatitis
- pancreatic atrophy
- pancreatic lipomatosis
- pancreatic trauma
- pancreatic transplant
-
pancreatic neoplasms
- gallbladder and biliary
- congenital malformations and anatomical variants
- gallstones
- gallbladder inflammation
- bile ducts inflammation
- gallbladder wall abnormalities
- other gallbladder abnormalities
- bile duct dilatation (differential)
- bile duct wall thickening (differential)
- bile ducts neoplasms
Unable to process the form. Check for errors and try again.