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Isolated polycystic liver disease

MedGen UID:
906378
•Concept ID:
C4255088
•
Disease or Syndrome
SNOMED CT: Isolated polycystic liver disease (716196007)

Definition

A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Professional guidelines

PubMed

Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.
Cnossen WR, Drenth JP
Orphanet J Rare Dis 2014 May 1;9:69. doi: 10.1186/1750-1172-9-69. PMID: 24886261Free PMC Article
Diagnosis and management of polycystic liver disease.
Gevers TJ, Drenth JP
Nat Rev Gastroenterol Hepatol 2013 Feb;10(2):101-8. Epub 2013 Jan 8 doi: 10.1038/nrgastro.2012.254. PMID: 23296249
Advances in management of polycystic liver disease.
Everson GT, Helmke SM, Doctor B
Expert Rev Gastroenterol Hepatol 2008 Aug;2(4):563-76. doi: 10.1586/17474124.2.4.563. PMID: 19072404

Recent clinical studies

Etiology

Genetics of polycystic liver diseases.
Lee-Law PY, van de Laarschot LFM, Banales JM, Drenth JPH
Curr Opin Gastroenterol 2019 Mar;35(2):65-72. doi: 10.1097/MOG.0000000000000514. PMID: 30652979
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease.
Li D, Shi X, Zhao L, Liang Z, Xie S, Wang G
Rev Esp Enferm Dig 2016 Feb;108(2):71-8. doi: 10.17235/reed.2015.3960/2015. PMID: 26838488
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.
Cnossen WR, Drenth JP
Orphanet J Rare Dis 2014 May 1;9:69. doi: 10.1186/1750-1172-9-69. PMID: 24886261Free PMC Article
Diagnosis and management of polycystic liver disease.
Gevers TJ, Drenth JP
Nat Rev Gastroenterol Hepatol 2013 Feb;10(2):101-8. Epub 2013 Jan 8 doi: 10.1038/nrgastro.2012.254. PMID: 23296249
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
Van Keimpema L, De Koning DB, Van Hoek B, Van Den Berg AP, Van Oijen MG, De Man RA, Nevens F, Drenth JP
Liver Int 2011 Jan;31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x. PMID: 20408955

Diagnosis

LRP5 variants may contribute to ADPKD.
Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP
Eur J Hum Genet 2016 Feb;24(2):237-42. Epub 2015 Apr 29 doi: 10.1038/ejhg.2015.86. PMID: 25920554Free PMC Article
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.
Cnossen WR, Drenth JP
Orphanet J Rare Dis 2014 May 1;9:69. doi: 10.1186/1750-1172-9-69. PMID: 24886261Free PMC Article
Diagnosis and management of polycystic liver disease.
Gevers TJ, Drenth JP
Nat Rev Gastroenterol Hepatol 2013 Feb;10(2):101-8. Epub 2013 Jan 8 doi: 10.1038/nrgastro.2012.254. PMID: 23296249
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
Van Keimpema L, De Koning DB, Van Hoek B, Van Den Berg AP, Van Oijen MG, De Man RA, Nevens F, Drenth JP
Liver Int 2011 Jan;31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x. PMID: 20408955
Isolated polycystic liver disease.
Qian Q
Adv Chronic Kidney Dis 2010 Mar;17(2):181-9. doi: 10.1053/j.ackd.2009.12.005. PMID: 20219621Free PMC Article

Therapy

Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease.
Li D, Shi X, Zhao L, Liang Z, Xie S, Wang G
Rev Esp Enferm Dig 2016 Feb;108(2):71-8. doi: 10.17235/reed.2015.3960/2015. PMID: 26838488
Effect of lanreotide on polycystic liver and kidneys in autosomal dominant polycystic kidney disease: an observational trial.
Gevers TJ, Hol JC, Monshouwer R, Dekker HM, Wetzels JF, Drenth JP
Liver Int 2015 May;35(5):1607-14. Epub 2014 Dec 1 doi: 10.1111/liv.12726. PMID: 25369108
Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease.
Gevers TJ, Chrispijn M, Wetzels JF, Drenth JP
BMC Nephrol 2012 Apr 4;13:17. doi: 10.1186/1471-2369-13-17. PMID: 22475206Free PMC Article
The long-term outcome of patients with polycystic liver disease treated with lanreotide.
Chrispijn M, Nevens F, Gevers TJ, Vanslembrouck R, van Oijen MG, Coudyzer W, Hoffmann AL, Dekker HM, de Man RA, van Keimpema L, Drenth JP
Aliment Pharmacol Ther 2012 Jan;35(2):266-74. Epub 2011 Nov 24 doi: 10.1111/j.1365-2036.2011.04923.x. PMID: 22111942

Prognosis

LRP5 variants may contribute to ADPKD.
Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP
Eur J Hum Genet 2016 Feb;24(2):237-42. Epub 2015 Apr 29 doi: 10.1038/ejhg.2015.86. PMID: 25920554Free PMC Article
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.
Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP
Proc Natl Acad Sci U S A 2014 Apr 8;111(14):5343-8. Epub 2014 Mar 24 doi: 10.1073/pnas.1309438111. PMID: 24706814Free PMC Article
Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease.
Gevers TJ, Chrispijn M, Wetzels JF, Drenth JP
BMC Nephrol 2012 Apr 4;13:17. doi: 10.1186/1471-2369-13-17. PMID: 22475206Free PMC Article
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
Van Keimpema L, De Koning DB, Van Hoek B, Van Den Berg AP, Van Oijen MG, De Man RA, Nevens F, Drenth JP
Liver Int 2011 Jan;31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x. PMID: 20408955
Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease.
Hoevenaren IA, Wester R, Schrier RW, McFann K, Doctor RB, Drenth JP, Everson GT
Liver Int 2008 Feb;28(2):264-70. Epub 2007 Oct 9 doi: 10.1111/j.1478-3231.2007.01595.x. PMID: 17927714

Clinical prediction guides

Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease.
Li D, Shi X, Zhao L, Liang Z, Xie S, Wang G
Rev Esp Enferm Dig 2016 Feb;108(2):71-8. doi: 10.17235/reed.2015.3960/2015. PMID: 26838488
LRP5 variants may contribute to ADPKD.
Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP
Eur J Hum Genet 2016 Feb;24(2):237-42. Epub 2015 Apr 29 doi: 10.1038/ejhg.2015.86. PMID: 25920554Free PMC Article
The long-term outcome of patients with polycystic liver disease treated with lanreotide.
Chrispijn M, Nevens F, Gevers TJ, Vanslembrouck R, van Oijen MG, Coudyzer W, Hoffmann AL, Dekker HM, de Man RA, van Keimpema L, Drenth JP
Aliment Pharmacol Ther 2012 Jan;35(2):266-74. Epub 2011 Nov 24 doi: 10.1111/j.1365-2036.2011.04923.x. PMID: 22111942
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
Van Keimpema L, De Koning DB, Van Hoek B, Van Den Berg AP, Van Oijen MG, De Man RA, Nevens F, Drenth JP
Liver Int 2011 Jan;31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x. PMID: 20408955
Advances in management of polycystic liver disease.
Everson GT, Helmke SM, Doctor B
Expert Rev Gastroenterol Hepatol 2008 Aug;2(4):563-76. doi: 10.1586/17474124.2.4.563. PMID: 19072404

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