QOL found lower among pediatric patients with Alagille syndrome

BOSTON — Health-related quality of life was diminished in pediatric patients with cholestatic Alagille syndrome compared with other chronic liver diseases among children, according to research data presented at The Liver Meeting.

In a prospective analysis, researchers reviewed more than 500 Pediatric Quality of Life Inventory 4.0 questionnaires (PedsQL, 0-100) administered to children (aged 5 to 18) and to parent proxies (for children aged 2 to 18 years). The surveys were part of the Childhood Liver Disease Research & Education Network that compared children with Alagille syndrome (n=70; ALGS), progressive familial intrahepatic cholestatis (n=49; PFIC) or alpha₁-antitrypsin deficiency (n=95; A1ATD). In the parent proxy group, there were 98 ALGS, 68 PFIC and 123 A1ATD children. Higher PedsQL scores indicated a greater health-related quality of life (HRQOL).

“With Alagille syndrome, children get liver disease and have other manifestations of their heart, their face, their bones. So many organ systems are involved,” Binita M. Kamath, MD, assistant professor at The Hospital for Sick Children in Toronto, Ontario, told Healio.com. “And the key is to understand what determines their quality of life.”

Mean PedsQL scores were significantly lower among ALGS patients compared with A1ATD patients, particularly when measuring physical domain (73 vs. 83; P=.0002), while ALGS patients had scores comparable with the PFIC group (73 vs. 79; P=.038). Parents of ALGS patients perceived their children to have lower HRQOL across all PedsQL domains when compared with A1ATD patients (P<.001). In comparison with the PFIC cohort, ALGS patients’ parents considered their children to have at least marginally lower HRQOL domains with the exception of school function.

Child-reported ALGS total scores for HRQOL were positively associated with height and weight z-scores (P=.008 for both), and in multivariate analysis, weight z-score remained significant for child reports. Parent reports for HRQOL reflected a significant association with cardiac defect.

“We found out that growth failure is one of the biggest problems [for children with Alagille syndrome],” Kamath said. “That affects their quality of life. … If they have a heart defect, they’re also more likely to have impaired quality of life.

“These children are shorter as a result of their syndrome and their liver disease. So if we can transplant them earlier potentially, perhaps they can grow better and that might help with their quality of life.”

Disclosure: Researcher Karen F. Murray reports she received grant/research support from Roche and Gilead Sciences. She is a stock shareholder with Merck.

For more information:

Kamath BM. P1124: Quality of Life in Alagille Syndrome is Associated with Growth Failure and Cardiac Defects. Presented at: The Liver Meeting 2012; Nov. 9-13, Boston.