Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study

Enrico Ferri Grazzi,Claudia Mighiu,Jörn M Schattenberg,Melanie Karakaidos,Emily Ventura,Karen F Murray,Jose Willemse,Alison Taylor,Sonia O’Hara,Harpreet Brrang,Anil Dhawan,Alan Finnegan

doi:10.1186/s13023-022-02177-0

Abstract

BackgroundProgressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area. We report health-related quality of life (HRQoL) and work productivity outcomes from the retrospective, cross-sectional PICTURE study investigating the burden of PFIC on caregivers. Information from caregivers of patients with PFIC 1 or 2 in Germany, the United Kingdom and the United States from September 2020 to March 2021 was included.ResultsThe PICTURE study sample comprised HRQoL responses from 22 PFIC caregivers. Patients were on average 8.2 years old; most caregivers were 30–49 years old (68%) and mothers (77%). Median CarerQoL-7D score was 67.7/100; mean CarerQoL-VAS score for general happiness was 5.7/10 (SD 2.1). Most caregivers reported fulfilment in their caregiving responsibilities, but problems with mental and physical health, finances, and relationships. When stratified by patient’s PFIC type, mean CarerQoL-7D and CarerQoL-VAS scores suggested worse HRQoL outcomes with PFIC2 versus PFIC1 (59.4 vs. 71.2, and 5.3 vs. 6.5, respectively). Additionally, more caregivers reported impact on sleep in the PFIC2 versus PFIC1 subgroup (93% vs. 75%). When stratified by history of PFIC-related surgeries, mean CarerQoL-7D and VAS scores were higher among those whose children had no specified surgeries (67.7 vs. 59.0/100 and 6.2 vs. 5.2/10, respectively). Nearly all caregivers reported an impact of caregiving responsibilities on sleeping (86%) and on personal relationships (82%). No caregivers reported having formal care support. Most caregivers were employed (73%); a third reported mean productivity loss of 12.9 days (SD 19.3) over the last 3 months, and a mean of 2.8 (SD 9.5) missed years of employment during their career. A higher number of workdays were missed by PFIC 2 caregivers compared to PFIC1 over last 3 months (16 days vs. 3 days).ConclusionsThe PICTURE study has demonstrated the prevalent, comprehensive, and meaningful burden that caring for an individual with PFIC has on caregivers. Despite fulfilment from caregiving, the breadth and depth of these responsibilities reduced caregiver reported HRQoL including mental and physical health, productivity, career prospects, sleep, relationships and finances.

Highlights

Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area
This paper addresses the self-reported health-related quality of life (HRQoL) and work productivity outcomes captured by the PICTURE study, providing a better understanding of the impact of PFIC on caregivers in particular
HRQoL responses were available from a total of 22 caregivers

Summary

Introduction

Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area. Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases of cholestasis, characterized by inadequate bile secretion, often requiring liver transplantation and leading to liver failure and early. The prevalence of PFIC in children with liver conditions ranges from 9–13% of those with cholestasis, splenomegaly, or acute liver failure [8,9,10,11]. PFIC1 typically manifests with a moderate to severe intensity: children may have severe itching (pruritus), an enlarged liver (hepatomegaly) and may have extrahepatic symptoms, including watery diarrhea, pancreatitis, deafness and short stature or failure to thrive [3]. Children with PFIC1 may experience end-stage liver disease (ESLD) within the first decade of life

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