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.
Disease overview
Severe symptoms and complications
Polycystic liver disease (PLD) is characterized by progressive growth of multiple (>10) fluid-filled cysts in the liver. The disease severity is affected by age and gender, with women suffering from symptomatic and severe disease to a greater extent than men.1-3
PLD leads to an increased liver size, which can cause severe symptoms such as abdominal pain and discomfort, shortness of breath (dyspnea), indigestion (dyspepsia), gastro-esophageal reflux, and limited mobility. The disease can also cause rare complications such as hepatic cyst hemorrhage and infection or rupture.4-7
Most patients with PLD are diagnosed in their 30s after reporting a sudden and accelerated increase of abdominal breadth together with PLD-related symptoms.8
An estimated 37,000 patients are living with symptomatic PLD in the US, EU4 (France, Germany, Italy, Spain) and UK, for whom there is a significant unmet medical need.9
Disease severity influenced by age and gender
Age and gender contribute to disease severity; increasing age is positively associated with both cyst sizes and numbers, and women are highly overrepresented among symptomatic patients.7,10-11
No approved medicines
There is currently no approved pharmacological treatment for symptomatic PLD in the EU or US.
References
- Gevers, T.J., et al. Nat Rev Gastroenterol Hepatol. 10(2): 101-8, 2018.
- Van Keimpema, L., et al. Liver int. 31(1):92-8, 2011.
- Leao, R.N., et al. Polycystic liver disease. BMJ Case Rep. 2014.
- Abu-Wasel B., et al. World J Gastroenterol, 2013. 19(35): p. 5775-86.
- Perugorria MJ, et al. Nat Rev Gastroenterol Hepatol. 2014;11(12):750-61.
- Neijenhuis MK, et al. United European Gastroenterol J. 2018;6(1):81-88.
- Cnossen WR, et al. Orphanet J Rare Dis. 2014;9: 69.
- van Aerts RMM, et al. J Hepatol. 68(4):827-37, 2018.
- In the US, EU4 and UK. Global Life Sciences report 2020; data on file.
- Gevers T. J. G., et al. Liver Int. May;35(5):1607-14, 2015.
- Pisani A., et al. Clin Gastroenterol Hepatol. Jul;14(7):1022-30, 2016.
1 in
100,000estimated to be affected by PLD1,3
37,000
peopleestimated to have symptomatic PLD in the US, EU4 and UK9
Symptoms
- Abdominal pain and discomfort
- Shortness of breath
- Early satiety
- Gastroesophageal reflux
- Rare complications: hepatic cyst hemorrhage, infection, rupture
Diagnosis
Diagnosis of PLD is made following imaging studies. Most patients with PLD are asymptomatic and are diagnosed incidental.4
Management
Surgical treatment can reduce symptoms by decreasing liver volume in some patients. However, there is today no approved medical treatment alternative for patients with PLD.
