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Rare diseases

Polycystic liver disease

Profound impact on quality of life

Polycystic liver disease (PLD) is a rare, genetic and chronic disorder characterized by progressive growth of cysts in the liver, which can cause severe symptoms and result in impaired quality of life for patients.

Disease overview

Severe symptoms and complications

Polycystic liver disease (PLD) is a rare and chronic disease characterized by progressive growth of multiple fluid-filled cysts in the liver. The cysts can cause severe symptoms such as abdominal pain and discomfort, shortness of breath, indigestion, gastro-esophageal reflux, and limited mobility. Rare complications are hepatic cyst hemorrhage, infection, or rupture.1-3

Most patients with PLD are diagnosed in their 30s after reporting a sudden increase in abdominal girth (measure around the body), together with other PLD-related symptoms.4

PLD is estimated to affect around 1 in 100,000 people.5,6 Today, there are an estimated 37,000 people in the US, EU4 (France, Germany, Italy, Spain) and UK living with symptomatic PLD for whom there is a significant unmet medical need.7

Disease severity influenced by age and gender

Age and gender influence disease severity, with older patients having an increased number and size of cysts, and women being more likely to have symptomatic PLD.8-10

No approved medicines

There is currently no approved pharmacological treatment for symptomatic PLD.


  1. Abu-Wasel, B., et al. Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases. World J Gastroenterol. 19(35): 5775-86, 2013.
  2. Perugorria, M.J., et al. Polycystic liver diseases: advanced insights into the molecular mechanisms. Nat Rev Gastroenterol Hepatol. 11(12): 750-61, 2014.
  3. Neijenhuis, M.K., et al. Impact of liver volume on polycystic liver disease-related symptoms and quality of life. United European Gastroenterol J. 6(1): 81-8, 2018.
  4. van Aerts RMM, et al. Clinical management of polycystic liver disease. J Hepatol. 68(4):827-37, 2018.
  5. Gevers, T.J., et al. Diagnosis and management of polycystic liver disease. Nat Rev Gastroenterol Hepatol. 10(2): 101-8, 2018.
  6. Leao, R.N., et al. Polycystic liver disease. BMJ Case Rep. 2014.
  7. in US and EU5. Global Life Sciences report 2020; data on file.
  8. Van Keimpema L., et al. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver international: official journal of the International Association for the Study of the Liver. 31(1):92-8, 2011.
  9. Gevers T. J. G., et al. Effect of lanreotide on polycystic liver and kidneys in autosomal dominant polycystic kidney disease: an observational trial. Liver Int. May;35(5):1607-14, 2015. 
  10. Pisani A., et al. Long-term Effects of Octreotide on Liver Volume in Patients With Polycystic Kidney and Liver Disease. Clin Gastroenterol Hepatol. Jul;14(7):1022-30, 2016.
  • 1 in

    estimated to be affected by PLD 5,6

  • 37,000

    estimated to have symptomatic PLD in the US, EU4 and UK7


  • Abdominal pain and discomfort
  • Shortness of breath
  • Early satiety
  • Gastoesophageal reflux
  • Rare complications: hepatic cyst hemorrage, infection, rupture


Diagnosis of PLD is made following imaging studies. Most patients with PLD are asymptomatic and are diagnosed incidentally.4


Surgical treatment can reduce symptoms by decreasing liver volume in some patients. However, there is no approved medical treatment alternative to surgery.