Researchers reported that patients with Alagille syndrome and their caregivers have a wide range of concerns regarding the disease and its treatment and that health state vignettes may be useful in estimating the cost-effectiveness of future treatments. The study was published in Value in Health.

Alagille syndrome is a rare cholestatic liver disorder that imposes a significant disease burden on both patients and their caregivers. Because it is typically diagnosed in infancy, treatment begins early and lasts for a lifetime. 

To better understand the spread of the Alagille syndrome disease burden, the authors of the study conducted a literature review to assess studies investigating the patient and caregiver experiences. In addition, they reviewed clinical trial data to trace the evolution of Pediatric Quality of Life inventory items over the years. Their intent was to develop health state vignettes that could be used to assess the economic value of new treatments. 

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Read more about Alagille syndrome etiology

The authors of the study also conducted qualitative interviews with caregivers (n=5) and healthcare professionals (n=4) on the typical symptoms experienced by patients with Alagille syndrome, as well as how this diagnosis impacts the health-related quality of life of both patients and their caregivers. 

The qualitative interviews brought up a range of issues associated with Alagille syndrome care. Through the interviews conducted, the research team discovered that the most commonly reported symptoms of Alagille syndrome included pruritus, jaundice, fatigue, and shortness of stature (failure to thrive). In terms of the impact of the disease, researchers discovered that pruritus in particular negatively affected patients’ education, sleep, and emotional well-being. 

Through this study, researchers were able to develop vignettes that described the typical experiences of a child and their caregiver in each health state, including symptoms, functioning, and health-related quality of life. 


Quadrado L, Mogul DB, Gurevich A, et al. PCR252 Patient and caregiver burden associated with caring for a child with Alagille syndrome: mixed-methods development of health state vignettes. Value Health. 2022;25(12):S438-S439. doi:10.1016/j.jval.2022.09.2185