The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria.
Kluijver LG, Wagenmakers MAEM, Wilson JHP, Langendonk JG
The Journal of clinical endocrinology and metabolism, 2024 Oct 14
Abstract
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disease, causing lifelong painful phototoxic reactions, minimal sunlight exposure, and vitamin D deficiency. Previous studies reported a high osteoporosis prevalence in EPP patients. The objective is to identify those at risk for low bone mineral density (BMD) and assess which factors, including treatment with cholecalciferol and afamelanotide, improve BMD in EPP.