Quality of life in children with erythropoietic protoporphyria: a case-control study
Louisa G Kluijver1, Debby Wensink1, Margreet A E M Wagenmakers1
1Department of Internal Medicine, Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Insights
Children with erythropoietic protoporphyria (EPP) experience significantly reduced quality of life (QoL) compared to healthy peers and adults with EPP. This highlights the urgent need for registered treatments for pediatric EPP patients.
Area of Science:
- Metabolic disorders
- Pediatric health
- Quality of Life research
Background:
- Erythropoietic protoporphyria (EPP) is an inherited metabolic disease causing painful phototoxic reactions in children.
- Reduced quality of life (QoL) is documented in adults with EPP, but data for children are scarce.
- Current EPP treatments are not registered for pediatric use, emphasizing the need to understand children's QoL.
Purpose of the Study:
- To assess and compare the QoL of children with EPP to healthy children and adults with EPP.
- To provide crucial data on the QoL of pediatric EPP patients for treatment development.
- To inform the necessity of including children in future EPP treatment studies.
Main Methods:
- Prospective, case-control study design involving children from the Netherlands and Belgium.
- Inclusion of 15 children with EPP, 13 matched healthy control children, and 15 matched adults with EPP.
- Utilized the Pediatric Quality of Life Inventory (PedsQL) and the disease-specific EPP-QoL for data collection.
Main Results:
- Children with EPP showed lower median scores in PedsQL physical and social domains compared to healthy children, though not statistically significant after multiple testing correction.
- Overall EPP-QoL scores for children were comparable to those of adults with EPP.
- Children with EPP reported significantly lower QoL in the EPP-QoL subdomain compared to adults with EPP.
Conclusions:
- Children diagnosed with EPP exhibit a diminished QoL relative to both healthy children and adults with the condition.
- The findings underscore the critical importance of making treatments available for pediatric EPP patients to enhance their QoL.
- Advocates for the inclusion of children in safety and efficacy studies to facilitate future treatment accessibility.
Abstract:
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that causes painful phototoxic reactions, starting in childhood. Studies have shown a reduced quality of life (QoL) in adults with EPP, however, data on children with the disease are lacking. Since treatment for EPP is currently not registered for children, knowledge about their QoL is of crucial importance. In this prospective, case-control study, we included children from the Netherlands and Belgium diagnosed with EPP and matched to healthy controls. Previously collected EPP quality of life (EPP-QoL) data from matched adults with EPP were used. QoL scores, utilizing the Pediatric Quality of Life Inventory (PedsQL) and the disease-specific EPP-QoL, were collected. Scores range from 0 to 100, with higher scores indicating a higher QoL. Non-parametric tests were used to compare groups. A total of 15 cases, 13 matched healthy control children, and 15 matched adults with EPP were included. Children with EPP exhibited lower median scores in the PedsQL in both physical (cases: 87.5 (interquartile range [IQR] 77.7-96.1), controls: 99.2 [IQR 94.9-100.0], p = 0.03) and social (cases: 77.5 [IQR 69.4-86.3], controls: 97.5 [IQR 78.8-100.0], p = 0.04) domains compared to healthy children, although these differences were not statistically significant after correcting for multiple testing. The overall median EPP-QoL score for children was similar to adults with EPP (children: 44.4 [IQR 25.0-54.2], adults: 45.8 [IQR 25.7-68.1], p = 0.68). However, within the EPP-QoL subdomain on QoL, children were found to have significantly lower median scores (children: 16.7 [IQR 0.0-33.3], adults: 33.3 [IQR 33.3-62.5], p < 0.01). In conclusion, children with EPP experience a reduced QoL compared to both healthy children and adults with EPP. Ensuring treatment availability for this patient group is crucial for improving their QoL. We advocate the inclusion of children in safety and efficacy studies, to ensure availability of treatment in the future.
Related Concept Videos
01:35Pedigree Analysis
01:14Erythropoiesis