Health-Related Quality of Life in Children with Multiple Endocrine Neoplasia (MEN) and their Siblings

CONTEXT: Multiple Endocrine Neoplasia (MEN) syndromes are rare autosomal dominant hereditary tumor predisposition syndromes affecting multiple family members. Carriers undergo health surveillance from early childhood onwards. Carriership or surveillance may influence Health-Related Quality of Life (HRQoL) for patients or their families.

OBJECTIVE: To evaluate HRQoL in children and adolescents with genetically confirmed MEN1, MEN2A, and MEN2B, and to compare outcomes with their siblings without MEN and healthy Dutch norms. Secondary aims were to explore associations between HRQoL and clinical characteristics.

METHODS: This nationwide cross-sectional study included 77 children with MEN (5-18 years) and 26 siblings (8-29 years). The Pediatric Quality of Life Inventory (PedsQL) was used to assess HRQoL, with children completing self-report questionnaires and parents providing proxy reports for their children with MEN. Sociodemographic and clinical data were obtained from medical records.

RESULTS: Children with MEN1 and MEN2A reported HRQoL comparable to siblings and healthy Dutch norms. Only children with MEN2B showed significantly lower physical HRQoL. No gender or age effects were observed. Parent-proxy scores were significantly higher than child self-reports on all domains, except for emotional functioning. Children with MEN1 and MEN2B having clinical MEN-related manifestations, had significantly lower physical, social, and school functioning scores than those without clinical manifestations.

CONCLUSION: Overall, children with MEN reported HRQoL comparable to siblings and age-matched Dutch norms, except for reduced physical functioning in MEN2B. Clinical manifestations negatively affected physical, social, and school functioning, suggesting that children with onset of disease may benefit from closer monitoring and targeted psychosocial support.