Clinical profile of autosomal dominant polycystic liver disease

Qi Qian, Airong Li, Bernard Francis King, Patrick Sequeira Kamath, Donna J. Lager, John III Huston, Clarence Shub, Sonia Davila, Stefan Somlo, Vicente Torres

Research output: Contribution to journalArticle

148 Citations (Scopus)

Abstract

Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD). The purpose of this study was to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD) using nonaffected family members as controls. The study included 146 probands, known affected relatives, and first-degree relatives of affected individuals. Participants underwent a formalized medical history interview and physical examination, ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography. Thirty-eight of the 49 individuals diagnosed with polycystic liver disease before participation in the study were or had been symptomatic. Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate. Compared with patients with a negative or indeterminate diagnosis, those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower levels of total cholesterol and triglycerides. Female patients had a significantly higher mean cyst score than male patients. The cysts were found to arise from the dilatation of biliary microhamartomas and from peribiliary glands. Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or nonaffected individuals. A vascular phenotype was detected in 5.6% of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis but in none of the unaffected patients. In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management.

Original languageEnglish (US)
Pages (from-to)164-171
Number of pages8
JournalHepatology
Volume37
Issue number1
DOIs
StatePublished - Jan 1 2003

Fingerprint

Autosomal Dominant Polycystic Kidney
Cysts
Magnetic Resonance Angiography
Polycystic liver disease
Natural History
Bilirubin
Physical Examination
Alkaline Phosphatase
Blood Vessels
Echocardiography
Dilatation
Triglycerides
Cholesterol
Interviews
Phenotype
Kidney
Liver
Brain
Serum
Therapeutics

ASJC Scopus subject areas

  • Hepatology

Cite this

Clinical profile of autosomal dominant polycystic liver disease. / Qian, Qi; Li, Airong; King, Bernard Francis; Kamath, Patrick Sequeira; Lager, Donna J.; Huston, John III; Shub, Clarence; Davila, Sonia; Somlo, Stefan; Torres, Vicente.

In: Hepatology, Vol. 37, No. 1, 01.01.2003, p. 164-171.

Research output: Contribution to journalArticle

Qian, Qi ; Li, Airong ; King, Bernard Francis ; Kamath, Patrick Sequeira ; Lager, Donna J. ; Huston, John III ; Shub, Clarence ; Davila, Sonia ; Somlo, Stefan ; Torres, Vicente. / Clinical profile of autosomal dominant polycystic liver disease. In: Hepatology. 2003 ; Vol. 37, No. 1. pp. 164-171.
@article{d6d8650e112d4ae39282394dfb98d3f9,
title = "Clinical profile of autosomal dominant polycystic liver disease",
abstract = "Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD). The purpose of this study was to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD) using nonaffected family members as controls. The study included 146 probands, known affected relatives, and first-degree relatives of affected individuals. Participants underwent a formalized medical history interview and physical examination, ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography. Thirty-eight of the 49 individuals diagnosed with polycystic liver disease before participation in the study were or had been symptomatic. Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate. Compared with patients with a negative or indeterminate diagnosis, those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower levels of total cholesterol and triglycerides. Female patients had a significantly higher mean cyst score than male patients. The cysts were found to arise from the dilatation of biliary microhamartomas and from peribiliary glands. Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or nonaffected individuals. A vascular phenotype was detected in 5.6{\%} of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis but in none of the unaffected patients. In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management.",
author = "Qi Qian and Airong Li and King, {Bernard Francis} and Kamath, {Patrick Sequeira} and Lager, {Donna J.} and Huston, {John III} and Clarence Shub and Sonia Davila and Stefan Somlo and Vicente Torres",
year = "2003",
month = "1",
day = "1",
doi = "10.1053/jhep.2003.50006",
language = "English (US)",
volume = "37",
pages = "164--171",
journal = "Hepatology",
issn = "0270-9139",
publisher = "John Wiley and Sons Ltd",
number = "1",

}

TY - JOUR

T1 - Clinical profile of autosomal dominant polycystic liver disease

AU - Qian, Qi

AU - Li, Airong

AU - King, Bernard Francis

AU - Kamath, Patrick Sequeira

AU - Lager, Donna J.

AU - Huston, John III

AU - Shub, Clarence

AU - Davila, Sonia

AU - Somlo, Stefan

AU - Torres, Vicente

PY - 2003/1/1

Y1 - 2003/1/1

N2 - Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD). The purpose of this study was to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD) using nonaffected family members as controls. The study included 146 probands, known affected relatives, and first-degree relatives of affected individuals. Participants underwent a formalized medical history interview and physical examination, ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography. Thirty-eight of the 49 individuals diagnosed with polycystic liver disease before participation in the study were or had been symptomatic. Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate. Compared with patients with a negative or indeterminate diagnosis, those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower levels of total cholesterol and triglycerides. Female patients had a significantly higher mean cyst score than male patients. The cysts were found to arise from the dilatation of biliary microhamartomas and from peribiliary glands. Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or nonaffected individuals. A vascular phenotype was detected in 5.6% of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis but in none of the unaffected patients. In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management.

AB - Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD). The purpose of this study was to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD) using nonaffected family members as controls. The study included 146 probands, known affected relatives, and first-degree relatives of affected individuals. Participants underwent a formalized medical history interview and physical examination, ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography. Thirty-eight of the 49 individuals diagnosed with polycystic liver disease before participation in the study were or had been symptomatic. Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate. Compared with patients with a negative or indeterminate diagnosis, those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower levels of total cholesterol and triglycerides. Female patients had a significantly higher mean cyst score than male patients. The cysts were found to arise from the dilatation of biliary microhamartomas and from peribiliary glands. Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or nonaffected individuals. A vascular phenotype was detected in 5.6% of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis but in none of the unaffected patients. In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management.

UR - http://www.scopus.com/inward/record.url?scp=0037219154&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037219154&partnerID=8YFLogxK

U2 - 10.1053/jhep.2003.50006

DO - 10.1053/jhep.2003.50006

M3 - Article

C2 - 12500201

AN - SCOPUS:0037219154

VL - 37

SP - 164

EP - 171

JO - Hepatology

JF - Hepatology

SN - 0270-9139

IS - 1

ER -