OBJECTIVES: To provide data on primary sclerosing cholangitis (PSC) from peer-reviewed sources and grey literature, focusing on epidemiology, natural history and disease progression, health-related quality of life (HRQoL), patient-reported outcomes, clinical and economic burden.

METHODS: A structured literature review was conducted to identify English-language publications from 01/01/2015 to 09/30/2022 in PubMed, Embase, Cochrane, NHS Economic Evaluation Database, Health Economics Research Centre database and proceedings from 5 conferences. One reviewer conducted screening and data extraction.

RESULTS: Searches identified 5,475 unique publications, of which 150 were included based on inclusion and exclusion criteria. PSC, a rare disease with increasing incidence is more common in men, with 31-58 years as median age at diagnosis. Symptoms like abdominal discomfort, fatigue, itching can compromise patients' HRQoL. Since no medical interventions exist that can cure or alter the disease course, pharmacological management focuses on control of symptoms and progression. Although studies reported a range of 7-72.1% for PSC recurrence (rPSC) after liver transplantation (LT), most reported rates closer to 20%. rPSC patients have worse prognosis than the primary disease. PSC patients reported the highest median costs during wait-list time until LT, attributed to clinical evaluation costs (endoscopic retrograde cholangiopancreatography being one of the highest cost drivers in inpatients). Post-LT, PSC patients had the second highest outpatient costs. PSC is associated with an increased risk of cancer incidence, all-cause mortality, post-LT, and LT waitlist mortality. Inflammatory bowel disease and other autoimmune diseases are common and reported to increase the risk of extra-biliary cancers. SF-36 was the most frequently used tool to assess HRQoL with patients in several countries reporting lower HRQoL versus healthy controls.

CONCLUSIONS: PSC patients experience daily symptoms, increased mortality and higher risk of developing cancer compared with the general population, resulting in lower HRQoL. The burden is higher in patients with autoimmune comorbidities.