To identify EPP patients at risk for low bone mineral density (BMD) and assess factors, including treatments like cholecalciferol and afamelanotide, that improve BMD.
Key Findings:
82.7% of 139 EPP patients had a Z-score below 0 SD at baseline.
39.5% had osteopenia and 15.3% had osteoporosis.
34.2% of patients experienced osteoporosis-related fractures.
Aging (OR 1.08; CI, 1.03-1.12), persistent vitamin D deficiency (OR 1.11; 95% CI, 1.00-1.23), and low BMI (OR 0.91; 95% CI, 0.82-0.99) increased odds of low BMD.
Vitamin D deficiency (OR 5.51; 95% CI, 1.69-17.92) and lack of cholecalciferol treatment (OR 0.22; 95% CI, 0.04-1.34) were associated with higher odds of improving BMD.
Interpretation:
EPP patients are at significant risk for low BMD due to limited sunlight exposure and vitamin D deficiency, highlighting the critical need for adequate vitamin D status and supplementation for bone health.
Limitations:
Single-center study may limit generalizability.
Retrospective data collection may introduce bias.
Potential confounding factors not accounted for in the analysis.
Conclusion:
Adequate vitamin D status is crucial for preventing and improving low BMD in EPP patients, emphasizing the importance of vitamin D supplementation.
