[FGF23 related hypophosphatemic rickets:current therapy and unresolved issues]

Area of Science:

• Endocrinology
• Genetics
• Pediatric Bone Diseases

Background:

• FGF23-related hypophosphatemic rickets is typically managed with active vitamin D and phosphorus supplementation.
• Current treatments aim to reduce bone deformity, enhance adult height in children, and alleviate pain and osteomalacia in adults.
• However, these therapies do not address the underlying molecular defect, leading to persistent bone issues and suboptimal growth.

Purpose of the Study:

• To evaluate the limitations of current treatments for FGF23-related hypophosphatemic rickets.
• To explore the potential of novel therapeutic strategies targeting the molecular pathology of the disease.
• To assess the efficacy of anti-FGF23 antibodies in managing complications like enthesopathy.

Main Methods:

• Review of current treatment protocols for FGF23-related hypophosphatemic rickets.
• Analysis of disease progression and treatment outcomes in patients with FGF23-related hypophosphatemic rickets.
• Evaluation of the emerging role of anti-FGF23 antibody therapy.

Main Results:

• Standard treatments fail to prevent progressive bone deformity and limit adult height.
• Adult patients frequently develop enthesopathy, causing severe pain and neurological complications like spinal cord compression.
• No current treatment effectively prevents or reverses enthesopathy.

Conclusions:

• Current therapies for FGF23-related hypophosphatemic rickets are palliative and do not resolve the core molecular defect.
• Enthesopathy represents a significant and untreatable complication in adult patients.
• Anti-FGF23 antibody therapy presents a potential disease-modifying treatment for FGF23-related hypophosphatemic rickets.