Diagnosis and management of X-linked hypophosphatemia in dental practice: A scoping review.

Abstract

X-linked hypophosphatemia (XLH) is a PHEX-related disorder causing elevated FGF23, chronic hypophosphatemia, and impaired skeletal and dental mineralization, leading to frequent endodontic abscess in clinically sound teeth due to intrinsic structural failure, periapical lesions and early tooth loss. To address the lack of standardized oral management, a comprehensive literature review was conducted using EMBASE, MEDLINE, PubMed, Scopus, and Cochrane databases (1988-2024), adhering to PRISMA-ScR guidelines. Based on this evidence, multidisciplinary recommendations were developed to provide diagnostic and therapeutic strategies across dental specialties, including periodontics, endodontics, surgery, orthodontics, and restorative dentistry. The review describes specific clinical and radiographic diagnostic criteria and proposes preventive interventions and minimally invasive treatment planning. Key recommendations highlight that interdisciplinary management is critical to reducing complications and improving long-term oral health. Dentists should recognize XLH's characteristic dental manifestations to ensure timely diagnosis. Implementing these evidence-based strategies may enhance prevention, reduce endodontic complications, and significantly improve the quality of life in affected patients. LAY SUMMARY: X-Linked Hypophosphatemia (XLH) is a genetic condition that weakens bones and teeth. Patients often suffer from tooth infections (abscesses) and lose teeth early because their dental structure is fragile. This study reviewed dental research from 1988 to 2024 to identify the best ways to care for these patients. We developed evidence-based recommendations to help dentists diagnose the disease early and use specific treatments to prevent complications. These strategies aim to reduce pain and tooth loss, significantly improving the quality of life for people living with XLH.