Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry

Abstract Objectives Progressive familial intrahepatic cholestasis (PFIC) is an overarching term for rare monogenic defects that result in cholestatic liver disease. Larger consortia‐based registries have begun to address the challenges of PFIC as a rare disease with variable phenotype, but patient‐reported outcomes (PROs) have not been extensively described. Here, we report baseline analysis from the PFIC network patient registry (PNPR), an effort to report outcome measures identified as meaningful and impactful to those living with the disease. Methods The PNPR is a prospective, international, voluntary patient registry collecting longitudinal PROs relevant to PFIC and its complications, including diagnosis, symptoms, surgeries, medications as well as validated measures related to itch, sleep, and general health (patient‐reported outcomes measurement information system PROMIS measures), disease impact on family quality of life (QoL), and financial burden of the disease. Results Baseline data from 161 international patients were included. Registrants included patients affected by several subtypes and benign recurrent intrahepatic cholestasis, and 19 participants with an unknown or missing diagnosis. Pruritus is an important contributor to morbidity with severity of itch positively correlating with sleep disturbance and sleep impairment and negatively correlating with family QoL and overall health. The financial burden of disease was reflected by higher out‐of‐pocket medical costs and more reported challenges arranging medical care compared to the general US population. Conclusion The PNPR fills a previously identified gap in PFIC research—the lack of PROs—and reveals the negative impact of disease and pruritus on patient and family function, QoL indicators, finances, and measures of general health.