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[Polycystic liver disease]

Marie Ongaro1, Francois-Nathan Bronstein1, Nicolas Goossens1

  • 1Service de gastroentérologie et hépatologie, Hôpitaux universitaires de Genève, 1211 Genève 14.

Revue Medicale Suisse
|September 1, 2022
PubMed

Insights

Polycystic liver disease (PLD) encompasses biliary hamartomas, ADPLD, and ADPKD. While often asymptomatic, PLD can progress, with estrogen influencing cyst growth, necessitating careful diagnosis and management in specialized centers.

Area of Science:

  • Hepatology
  • Genetics
  • Radiology

Background:

  • Polycystic liver disease (PLD) comprises biliary hamartomas, autosomal dominant polycystic liver disease (ADPLD), and autosomal dominant polycystic kidney disease (ADPKD).
  • These conditions are characterized by the progressive development and growth of liver cysts over time.
  • While often asymptomatic, PLD can manifest with symptoms, particularly in women due to estrogen's influence on cyst growth.

Purpose of the Study:

  • To provide a comprehensive overview of Polycystic Liver Disease (PLD) entities.
  • To highlight diagnostic approaches and management considerations for PLD.
  • To emphasize the importance of early identification and expert center care for PLD complications.

Main Methods:

  • Diagnosis of PLD relies on medical imaging techniques.
  • Genetic analysis is crucial for identifying inherited forms like ADPLD and ADPKD.
  • Clinical evaluation assesses cyst burden and potential complications.

Main Results:

  • Biliary hamartomas are benign and asymptomatic, arising from ductal plate malformation.
  • ADPLD and ADPKD are genetic disorders characterized by significant cyst formation.
  • Symptomatic PLD predominantly affects women, with estrogen identified as a factor promoting cyst growth.

Conclusions:

  • Early diagnosis through imaging is essential for effective PLD management.
  • Estrogen-based treatments are contraindicated in symptomatic PLD due to potential adverse effects.
  • Management of PLD complications requires timely intervention within expert centers.

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