Inherited fibroblast growth factor 23 excess

Area of Science:

• Endocrinology
• Genetics
• Pediatric Orthopedics

Background:

• Inherited fibroblast growth factor 23 (FGF-23) excess presents as a spectrum of conditions, including X-linked hypophosphataemia (XLH) and various forms of rickets.
• These disorders also encompass syndromic conditions such as fibrous dysplasia/McCune Albright syndrome, osteoglophonic dysplasia, Jansen's chondrodysplasia, and cutaneous skeletal hypophosphataemia syndrome.

Purpose of the Study:

• To review the diagnostic approaches for inherited FGF-23 excess syndromes.
• To discuss current and emerging treatment strategies for these conditions.
• To highlight the importance of integrated care for managing long-term patient outcomes.

Main Methods:

• Diagnostic evaluation involves careful assessment of patient symptomatology, family history, and clinical features.
• Appropriate laboratory tests and genetic screening are crucial for confirming diagnoses.
• Review of current literature and clinical guidelines for treatment strategies.

Main Results:

• Accurate diagnosis relies on a combination of clinical evaluation and laboratory/genetic testing.
• Phosphate supplements and calcitriol remain foundational treatments.
• Burosumab, a monoclonal antibody targeting FGF-23, is now approved for XLH in children and adults, showing promise for improved health outcomes.

Conclusions:

• Early and accurate diagnosis of inherited FGF-23 excess syndromes is essential for timely management.
• While medical treatments have advanced, surgical correction may still be necessary for persistent bony deformities.
• Optimizing treatment adherence and care transitions can improve long-term health-related quality of life.