Caring for patients with Alagille syndrome: a multinational survey investigating the mental health and financial burden on caregivers

<b>Aim:</b> Alagille syndrome (ALGS) is a rare, autosomal dominant, cholestatic liver disease that negatively impacts a patient’s health-related quality of life (HRQoL). Cholestatic pruritus associated with ALGS is the most severe of any liver disease, is negatively correlated with HRQoL, and is the leading indication for liver transplantation in these patients. Whereas published data demonstrate the burden of ALGS on patient HRQoL, similar data showing the impact on caregivers are lacking. The objective of this study was to investigate the burden of ALGS on caregivers’ HRQoL. <b>Materials &amp; methods:</b> A multinational, online survey was administered to caregivers of ALGS patients using validated instruments to capture the impact of ALGS on HRQoL. <b>Results:</b> A total of 103 caregivers completed the survey; 43% received a liver transplantation. The most common ALGS related symptoms were pruritus (81%), jaundice (71%) and heart murmur (60%). Employed caregivers missed on average 8 h of paid work in the previous week. Caregivers of patients with no/mild itch had significantly better sleep quality than those with moderate/severe itch (<i>p</i> = 0.008). Caregivers had higher anxiety/depression and worse HRQoL versus the general population. <b>Conclusion:</b> The results highlight the dramatic impact of pruritus and other ALGS related symptoms on caregivers’ HRQoL and financial burden. Alagille syndrome (ALGS) is a rare, debilitating and life-threatening disorder that presents with a broad range of clinical manifestations. Children with ALGS have significantly impaired health-related quality of life (HRQoL) compared with healthy children. The data and the literature are limited in examining caregiver burden in patients with ALGS. This multinational, cross-sectional study was the first to highlight the negative impacts on HRQoL and the emotional, sleep, daily activity and work burden experienced by caregivers of children with ALGS. Specifically, the majority of caregivers (71%) reported that their sleep was affected by their child’s itch in a given week, over a third (35%) of the caregivers had moderate to severe anxiety, and most caregivers (79%) reported a negative financial impact from caring for their children with ALGS. These results demonstrate the high need to identify and implement successful treatments that would enable better quality of care for children with rare diseases and potentially better mental health and financial outcomes for their caregivers.