The impact of Alagille syndrome on caregivers remains largely unexplored, but there is consensus that the effects are real and significant, according to an abstract that will be presented at the 2022 North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) Annual Meeting.

Studies have revealed that Alagille syndrome, a rare genetic disease, is associated with a high disease burden and diminished health-related quality of life. This is due to the symptoms of the disease: xanthomas, intractable pruritus, and failure to thrive.

Pruritus is a particularly troublesome symptom since it can cause scarring, self-mutilation, and sleep disruption. This and other lifestyle disruptions exact a heavy disease burden on both patients and their caregivers. 

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Quadrado and colleagues set out to further understand the impact of Alagille syndrome on the quality of life of caregivers. They attempted to do so by conducting a literature review on this topic then producing an online multinational survey for caregivers to express their experience in caring for patients with Alagille syndrome. The survey was reviewed by other caregiver and patient association groups to ensure that the questions were able to accurately capture the burden of care experienced by caregivers. 

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“The survey consists of demographic and clinical questions, questions about caregiver sleep, work and productivity impact, questions about relationships and family, and validated instruments to assess [health-related quality of life], anxiety, and depression,” the authors of the study wrote. 

The study included 180 survey participants—90 from the Alagille syndrome caregiver population and 90 in the matched control group. At the time of publication of the abstract, data collection was ongoing.

Researchers planned to carefully study key differences in answers between the Alagille syndrome caregiver population and the matched control group. Results will be presented once compiled and analyzed. 


Quadrado L, Mogul D, Gurevich A, et al. Caregiver burden associated with caring for a child with Alagille syndrome: a multi-national, quantitative analysis. Abstract presented at: 2022 North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) Annual Meeting; October 13-15, 2022; Orlando, FL.