Center is an important indicator for choice of invasive therapy in polycystic liver disease

Abstract

Summary Polycystic liver disease (PLD) is a rare genetic disorder with progressive cyst growth as the primary phenotype. Therapy consists of volume reduction through invasive surgical or radiological procedures. To understand the process of treatment decision, our aim was to identify factors that increased the likelihood of treatment. We performed a cross‐sectional study using an international population of patients with PLD. We collected data on the following therapies: liver transplantation, resection, fenestration, and aspiration sclerotherapy. Data on the potential determinants, sex, center, autosomal dominant polycystic kidney disease (ADPKD), autosomal dominant polycystic liver disease (ADPLD), age at diagnosis, symptoms, and phenotype, were included. We corrected for follow‐up time. We included 578 patients in our study, and 35% underwent invasive therapy. Multivariate regression analysis showed that number of symptoms and age at diagnosis of PLD increased the likelihood of treatment (respectively, RR: 1.4, P < 0.001 and RR = 1.4, P = 0.03). The choice for liver transplantation or aspiration sclerotherapy was center dependent (RR: 0.7, P < 0.001 and RR: 1.1, P = 0.03, respectively). The results of our international cross‐sectional study suggest that a higher number of symptoms and every 10 years of PLD diagnosis increase the risk to undergo treatment by 40%. The choice to elect a particular modality is center dependent.

Clinical management of polycystic liver disease

“…1 Recently the international PLD Registry steering committee, consisting of experts who have extensive experience and knowledge in the field of PLD, came to a consensus to consider PLD in the context of >10 cysts. 2,3 PLD occurs in the setting of two distinct hereditary disorders, either as a primary presentation of ADPLD, or associated with polycystic kidneys in autosomal dominant polycystic kidney disease (ADPKD). 1 It is important to differentiate ADPLD from ADPKD because their followup, counselling, family screening and prognosis differ.…”

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing

“…14 Severe isolated ADPLD, presenting with numerous liver cysts and abdominal distention, is reported to be a very rare condition, with a prevalence of less than one per 100,000. 15,16 However, as ADPLD is rarely symptomatic except in extreme cases, it is likely underrecognized, 16 and an autopsy study reported multiple liver cysts in ten out of 10,104 retrospectively-collected consecutive autopsies and four out of 95 prospectively-collected consecutive autopsies. 17 Next-generation sequencing has revolutionized our ability to identify rare genetic variants in populations.…”

Drug holiday in patients with polycystic liver disease treated with somatostatin analogues

“…The International PLD Registry, which consists of PLD patients with >10 liver cysts, allows us to explore these issues in a real-world cohort in which clinical data from individual patients are collected uniformly. 15 , 16 Patients from two centers [Radboud University Medical Center (Nijmegen, The Netherlands) and University Hospital Leuven (Leuven, Belgium)] were evaluated for inclusion since these were the only centers with a history of SA prescription. Out of 741 patients, included in the International PLD Registry until December 2017, 231 patients were treated with SAs at least once.…”