Polycystic liver disease

Polycystic liver disease
Micrograph showing a von Meyenburg complex, a bile duct hamartoma associated with polycystic liver disease. Trichrome stain.

Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue.[1] PLD is commonly seen in association with autosomal-dominant polycystic kidney disease, with a prevalence of 1 in 400 to 1000, and accounts for 8–10% of all cases of end-stage renal disease.[2] The much rarer autosomal-dominant polycystic liver disease will progress without any kidney involvement.[2]

Signs and symptoms

The clinical presentation of this condition is as follows:[3]

  • Renal cysts
  • Abdominal pain
  • Abnormality of pancreas
  • Back pain
  • Gastroesophageal reflux

Pathophysiology

Associations with PRKCSH and SEC63 have been described.[4] Polycystic liver disease comes in two forms: autosomal dominant polycystic kidney disease (with kidney cysts) and autosomal dominant polycystic liver disease (liver cysts only).

Diagnosis

Most patients with PLD are asymptomatic with simple cysts found following routine investigations. After confirming the presence of cysts in the liver, laboratory tests may be ordered to check for liver function including bilirubin, alkaline phosphatase, alanine aminotransferase, and prothrombin time.[2]

Patients with PLD often have an enlarged liver which will compress adjacent organs, leading to nausea, respiratory issues, and limited physical ability. Classification of the progression of the disease takes into consideration the amount of remaining liver parenchyma compared to the amount and size of cysts.[2]

Polycystic liver disease can exist either as isolated polycystic liver disease (PCLD), part of autosomal dominant polycystic kidney disease (ADPKD), or autosomal recessive polycystic kidney disease (ARPKD).[5]

Gigot's classification Type I less than 10 large hepatic cysts Type II multiple cysts Type III only few areas of normal liver parenchyma are left

Treatment

Many patients are asymptomatic and thus are not candidates for surgery. For patients with pain or complications from the cysts, the goal of treatment is to reduce the size of cysts while protecting the functioning liver parenchyma.[2]

Cysts may be removed surgically or by using aspiration sclerotherapy.[2]

References

  1. ↑ Kelly DA (2009). Diseases of the Liver and Biliary System in Children. John Wiley & Sons. p. 239. ISBN 978-1-4443-0054-3. Archived from the original on 30 October 2021. Retrieved 7 March 2018.
  2. 1 2 3 4 5 6 Poston GJ, D'Angelica M, Adam R (2010). Surgical Management of Hepatobiliary and Pancreatic Disorders, Second Edition. CRC Press. p. 303. ISBN 978-1-84184-760-3. Archived from the original on 30 October 2021. Retrieved 7 March 2018.
  3. ↑ "Polycystic liver disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 29 October 2021.
  4. ↑ Online Mendelian Inheritance in Man (OMIM): 174050
  5. ↑ Zhang ZY, Wang ZM, Huang Y (March 2020). "Polycystic liver disease: Classification, diagnosis, treatment process, and clinical management". World Journal of Hepatology. 12 (3): 72–83. doi:10.4254/wjh.v12.i3.72. PMC 7097502. PMID 32231761.

Further reading

Classification
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