Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
OBJECTIVE
Isolated polycystic liver disease (PCLD) is characterized by the presence of multiple cysts in the liver in the absence of polycystic kidneys. The clinical profile of PCLD is poorly defined and we set up a study for the clinical characteristics of PCLD.


METHODS
We collected clinical data on 188 PCLD patients (defined as >10 liver cysts) from five tertiary referral centres, and 137 patients were selected for the purpose of this study. We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients.


RESULTS
A total of 118 (86%) patients were female. The majority of patients (88%) had >20 cysts. The median age at diagnosis was 47 years (range 23-84). 37 (41%) patients carried a mutation. Clinical symptoms at presentation were present in 111 (84%) patients. γ-glutamyl transferase was elevated to 1.4 times upper limit of normal (interquartile range 1.0-2.7). The presence of a mutation and female gender predicted a more severe course: female patients were 9 years younger at the time of diagnosis (47 years; range 23-84) and 91% had symptoms (P<0.01); likewise, mutation carriers were younger at presentation (39 years; range 35-48) and 95% of this cohort had symptoms (P<0.01). During follow-up [median 8.2 years (range 0-35)], 10% of untreated and 51% of treated patients developed complications. Mortality in this cohort was 8%, but only 2% died of PCLD-related causes. 58% of patients were treated a median of 2 years (range 0-25) after diagnosis.


CONCLUSIONS
Symptomatic PCLD patients are mainly females. Females and mutation carriers were younger at diagnosis and had a more severe course of disease.
Van Keimpema
Loes
L
Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
De Koning
Daan B
DB
Van Hoek
Bart
B
Van Den Berg
Aad P
AP
Van Oijen
Martijn G H
MG
De Man
Robert A
RA
Nevens
Frederik
F
Drenth
Joost P H
JP
D000046:Academic Medical Centers / Q000706:statistics & numerical data*; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D058070:Asymptomatic Diseases; D001530:Belgium; D015415:Biomarkers / Q000097:blood; D002135:Calcium-Binding Proteins; D016009:Chi-Square Distribution; D003560:Cysts / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D005959:Glucosidases / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D053208:Kaplan-Meier Estimate; D008107:Liver Diseases / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation; D009426:Netherlands; D010641:Phenotype; D016601:RNA-Binding Proteins; D012017:Referral and Consultation / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D012737:Sex Factors; D013997:Time Factors; D055815:Young Adult
D015415:Biomarkers; D002135:Calcium-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D018832:Molecular Chaperones; D016601:RNA-Binding Proteins; C487464:SEC63 protein, human; D005959:Glucosidases; C070368:PRKCSH protein, human