The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria.

Autor:	Kluijver LG; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherland., Wagenmakers MAEM; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherland., Wilson JHP; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherland., Langendonk JG; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherland.
Jazyk:	angličtina
Zdroj:	The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Oct 14. Date of Electronic Publication: 2024 Oct 14.
DOI:	10.1210/clinem/dgae729
Abstrakt:	Background: 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. Methods: A longitudinal ambispective single centre cohort study. Data from patient files and two-time questionnaires from adult patients with EPP who underwent at least one dual-energy X-ray absorptiometry (DEXA) scan between 2012 and 2023 were used. Results: BMD is low in EPP patients, with 82.7% of the139 patients having a Z-score below 0 standard deviation (SD) at baseline. Low BMD classified as osteopenia was found in 39.5%, and osteoporosis in 15.3%. There were 50 osteoporosis-related fractures in 34.2% of patients. Aging (OR 1.08; CI: 1.03-1.12), persistent vitamin D deficiency (OR 1.11; 95% CI: 1.00-1.23) and a low body-mass index(OR 0.91; 95% CI: 0.82-0.99) increased the odds of low BMD. Patients with a vitamin D deficiency (OR 5.51; 95% CI: 1.69-17.92) and no cholecalciferol at baseline (OR 0.22; 95% CI: 0.04-1.34) had the highest odds of improving their BMD. Afamelanotide did not improve BMD. Conclusions: 25-hydroxyvitamin D (25(OH)D) status plays a crucial role in both preventing low BMD and improving BMD. EPP is a natural model for lack of sunlight exposure and vitamin D deficiency, underlining the importance of lifelong adequate vitamin D status for bone health in the general population. (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
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