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Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome
Binita M Kamath1, Zhen Chen2, Rene Romero3
1The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Insights
Health-related quality of life (HRQOL) is significantly impaired in children with Alagille syndrome (ALGS) compared to healthy peers and those with alpha-1-antitrypsin deficiency. Growth failure is a key factor impacting HRQOL in ALGS patients.
Area of Science:
- Pediatric Gastroenterology and Hepatology
- Quality of Life Research
- Genetic Liver Diseases
Background:
- Alagille syndrome (ALGS) is a rare genetic disorder affecting the liver, heart, and other organs, often leading to chronic cholestasis.
- Assessing health-related quality of life (HRQOL) is crucial for understanding the comprehensive impact of chronic childhood liver diseases.
- Limited data exists on HRQOL specifically in pediatric ALGS populations compared to other liver conditions.
Purpose of the Study:
- To evaluate and compare HRQOL in children with ALGS against healthy children and those with other liver diseases (alpha-1-antitrypsin deficiency [A1ATD] and other intrahepatic cholestasis [IHC]).
- To identify specific factors that determine or influence HRQOL in children diagnosed with ALGS.
Main Methods:
- A prospective study within the Childhood Liver Disease Research Network enrolled children aged 5-18 years.
- Pediatric Quality of Life Inventory (PedsQL) questionnaires were used for child-reported and parent-proxy assessments.
- Cohorts included 70 children with ALGS, 95 with A1ATD, and 49 with IHC, with parent data available for larger ALGS, A1ATD, and IHC groups.
Main Results:
- Children with ALGS reported significantly lower HRQOL scores compared to healthy children and those with A1ATD (P = .001).
- HRQOL in ALGS children was comparable to those with other intrahepatic cholestasis (IHC), with differences noted in physical functioning.
- Child-reported HRQOL correlated positively with growth and inversely with total bilirubin; parental perception of HRQOL was influenced by growth failure, elevated INR, and cardiac defects. Weight z-score was the only significant predictor in multivariate analysis for both child and parent scores.
Conclusions:
- Children with ALGS experience impaired HRQOL relative to healthy children and those with A1ATD, and similar levels to children with IHC.
- Growth failure is identified as a significant determinant of impaired HRQOL in pediatric ALGS.
- Addressing growth failure presents a potential therapeutic target for improving HRQOL in children with Alagille syndrome.
Objectives:
To assess health-related quality of life (HRQOL) in children with Alagille syndrome (ALGS) in comparison with healthy and other liver disease cohorts, and to identify determinants of HRQOL in patients with ALGS.
Study Design:
Within the Childhood Liver Disease Research Network prospective study of cholestasis, Pediatric Quality of Life Inventory (PedsQL) questionnaires were administered to 70 children with ALGS, 95 children with alpha-1-antitrypsin deficiency (A1ATD), and 49 children with other causes of chronic intrahepatic cholestasis (IHC) aged 5-18 years. Parent proxy PedsQL scores were recorded for children aged 2-18 years (98 ALGS, 123 A1ATD, and 68 IHC).
Results:
Mean ages and total bilirubin (mg/dL) were ALGS 9.4 years; 4.4, A1ATD 9.5 years; 0.7, and IHC 10.3 years; 2.9. ALGS child PedsQL scores were lower than in healthy children and children with A1ATD (mean 73 vs 83; P = .001). Children with ALGS and IHC were similar, except in physical scores (73 vs 79; P = .05). Parents of children with ALGS perceived their children to have worse HRQOL than A1ATD (P ≤ .001) and marginally lower compared with IHC. Univariate analysis revealed ALGS child-reported scores were positively associated with better growth and inversely with total bilirubin. Growth failure, elevated international normalized ratio, and an intracardiac defect were predictive of poor parental scores (P ≤ .05). In multivariate analysis, only weight z-score remained significant for child- and parent-reported scores.
Conclusions:
HRQOL is impaired in children with ALGS compared with healthy and children with A1ATD, similar to children with IHC and is associated with growth failure, which is a potentially treatable cause of impaired HRQOL.
