Alagille syndrome (ALGS) is a multisystem disease with variable clinical penetrance involving the liver, heart, blood vessels, kidneys, eyes, and bones. Health-related quality of life (HRQOL) in ALGS is affected by the degree and number of organ systems involved. Growth failure, jaundice, the severity of extrahepatic comorbidities (particularly cardiovascular), and mental health are all associated with lower HRQOL. Two large studies of ALGS patients have shown they have lower HRQOL compared to normal children and score lower than children with other liver diseases in specific domains as well. Data on targeted medical and surgical interventions to support functional outcomes are needed which may also improve overall HRQOL.
Data on neurocognitive outcomes, although limited, suggest a high prevalence of neurocognitive deficits which persist post transplantation. Mental health and academic development needs should be considered and assessed continuously to improve cognitive outcomes in the ALGS population. Multicenter research networks are needed to study neurocognitive outcomes in this very heterogeneous disease.
Growth failure Pruritus Executive function Liver transplantation Cholestasis IQ PedsQL™
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