Work

Expert guidance on X-linked hypophosphatemia in adults and adolescents in the Gulf region

Year: 2026

Type: article

Abstract: Background X-linked hypophosphatemia (XLH) is a rare inherited metabolic bone disorder, with lifelong effects on skeletal health, function, and quality of life. In the Gulf Cooperation Council (GCC) region, differing healthcare systems and prevalent genetic diseases pose unique diagnostic and management challenges. This study aimed to develop consensus-based, regionally adapted guidance for the diagnosis, treatment, and transitional care of adolescents and adults with XLH. Using a modified Delphi method, 15 experts from 5 GCC countries and Germany participated in iterative rounds of literature-informed consensus development. No clinical interventions were involved. Results The modified Delphi process yielded 29 final statements, with 94% consensus across 5 key domains: diagnosis and family counseling, transitional care, multidisciplinary management, treatment goals, and pharmacotherapy (with the recombinant human monoclonal immunoglobulin G1 antibody burosumab as first-line). Expert recommendations emphasized early detection, genetic testing, and centralized referral pathways. Age-specific treatment objectives were defined: adolescent care should focus on growth, psychosocial well-being, and transition readiness; adult care should prioritize symptom control, independence, and quality of life. Asymptomatic individuals warrant proactive monitoring due to potential late complications. Empowered patients and families, psychosocial support, and treatment adherence were considered vital to long-term health. The panel endorsed the Gulf FGF23-mediated hypophosphatemic rickets registry and proposed the formation of a GCC XLH Consortium to improve data sharing, research collaboration, and advocacy. Conclusions This is the first GCC region-specific clinical guidance for adults and adolescents with XLH and is intended to unify care practices, improve outcomes, and strengthen patient-centered infrastructure across the region.

Source: Orphanet Journal of Rare Diseases

DOI: 10.1186/s13023-026-04640-8