Treatment of Polycystic Liver Disease

Abstract

Polycystic liver disease (PLD) is a genetic disorder in which patients suffer from progressive development of multiple (>10) hepatic cysts. Most patients remain asymptomatic during the course of their disease. However, a minority of PLD patients suffer from symptoms caused by hepatomegaly leading to serious limitations in daily life. Untreated symptomatic PLD patients score significantly worse on health-related quality of life (HRQoL) compared to age and gender-matched populations. Currently, liver transplantation is the only curative treatment for PLD. The main goal of other available therapies is to strive for symptomatic relief and improvement of HRQoL by suppressing disease progression. In this review, we summarize the effect of PLD treatment on patient-reported outcome measures with a distinction between HRQoL and symptom severity. At present there is heterogeneity in application of questionnaires and no questionnaire is available that measures both HRQoL and PLD symptom severity. Therefore, we recommend the combination of a validated PLD-specific symptom severity questionnaire and a general HRQoL questionnaire to evaluate treatment success as a minimal core set. However, the specific choice of questionnaires depends on treatment choice and/or research question. These questionnaires may serve as a biomarker of treatment response, failure, and adverse events.

Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD—a randomized controlled trial

“…Nonetheless, considering the lack of therapeutic options for PLD, any new option to limit liver growth in PLD would have a major clinical impact. 34 Repetitive WF periods did not lead to any significant changes in outcome parameters in our study. Consequently, the hypothesis that repetitive short-term ketosis may induce beneficial effects is not supported and potentially abrogated by rebound effects.…”

Patient reported outcome measure thresholds: The next step in the management of polycystic liver disease

“…However, the lack of treatment thresholds contributes to the present heterogeneity in the application of PROMs. 8 A more systematic and uniform estab- In conclusion, the established POLCA thresholds that give an indication when to start PLD treatment, and similar thresholds are expected to be available for the PLD-Q shortly. As a next step, we should strive for a more systematic implementation of these PROM thresholds in clinical practice to guide the initiation of PLD therapies.…”

“…A review by the authors of this paper showed that these symptom specific PROMs are increasingly applied. However, the lack of treatment thresholds contributes to the present heterogeneity in the application of PROMs 8 . A more systematic and uniform establishment and implementation of PROM thresholds would assist healthcare providers in disease monitoring, treatment initiation and therapy evaluation in PLD.…”

“…However, the lack of treatment thresholds contributes to the present heterogeneity in the application of PROMs. 8 A more systematic and uniform establishment and implementation of PROM thresholds would assist healthcare providers in disease monitoring, treatment initiation and therapy evaluation in PLD. An important first step has been taken by determining POLCA thresholds that indicate the need for SA therapy (SPI > 14) or LT (SPI > 18).…”

Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease

“…However, due to the increase in cyst volume or the number of cysts, hepatomegaly can result in abdominal pain, early satiety, gastroesophageal reflux, indigestion, nausea, shortness of breath, and abdominal wall hernias [ 15 , 18 ]. Due to these symptoms, an ADPLD individual’s quality of life (QoL) may be compromised [ 19 , 20 ]. Liver transplantation is the only definitive cure for PLD, but only ~1.4% of liver transplants are directed to PLD individuals [ 21 , 22 ].…”