The Impact of Minimal Sunlight Exposure on Bone Health: Insights From a Cohort Study in Erythropoietic Protoporphyria.

IF 5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Louisa G Kluijver, Margreet A E M Wagenmakers, J H Paul Wilson, Janneke G Langendonk
{"title":"The Impact of Minimal Sunlight Exposure on Bone Health: Insights From a Cohort Study in Erythropoietic Protoporphyria.","authors":"Louisa G Kluijver, Margreet A E M Wagenmakers, J H Paul Wilson, Janneke G Langendonk","doi":"10.1210/clinem/dgae729","DOIUrl":null,"url":null,"abstract":"<p><strong>Context: </strong>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.</p><p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>A longitudinal ambispective single-center 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 (DXA) scan between 2012 and 2023 were used.</p><p><strong>Results: </strong>BMD is low in EPP patients, with 82.7% of the 139 patients having a Z-score below 0 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 (odds ratio [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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"1633-1646"},"PeriodicalIF":5.0000,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086420/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Endocrinology & Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1210/clinem/dgae729","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0

Abstract

Context: 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.

Objective: 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-center 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 (DXA) scan between 2012 and 2023 were used.

Results: BMD is low in EPP patients, with 82.7% of the 139 patients having a Z-score below 0 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 (odds ratio [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.

Conclusion: 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.

最低限度的日光照射对骨骼健康的影响:红细胞生成性原卟啉症队列研究的启示。
背景:红细胞生成性原卟啉症(EPP)是一种罕见的遗传代谢性疾病,会导致终生痛苦的光毒性反应、极少的日光照射和维生素 D 缺乏。以往的研究报告显示,EPP 患者骨质疏松症的发病率很高。研究的目的是确定那些有骨矿物质密度(BMD)偏低风险的患者,并评估哪些因素(包括胆钙化醇和阿法米诺肽的治疗)可改善 EPP 患者的 BMD:方法:一项纵向、前瞻性的单中心队列研究。研究数据来自患者档案和两次问卷调查,这些数据来自在2012年至2023年期间接受过至少一次双能X射线吸收测定(DEXA)扫描的成年EPP患者:结果:EPP 患者的 BMD 很低,139 名患者中有 82.7% 的基线 Z 值低于 0 标准差 (SD)。39.5%的患者的低 BMD 被归类为骨质疏松症,15.3%的患者被归类为骨质疏松症。34.2%的患者发生了 50 例与骨质疏松症相关的骨折。年龄增长(OR 1.08;CI:1.03-1.12)、持续缺乏维生素 D(OR 1.11;95% CI:1.00-1.23)和低体重指数(OR 0.91;95% CI:0.82-0.99)会增加 BMD 偏低的几率。缺乏维生素 D(OR 5.51;95% CI:1.69-17.92)和基线没有胆钙化醇(OR 0.22;95% CI:0.04-1.34)的患者改善 BMD 的几率最高。阿法美拉诺特不能改善 BMD:结论:25-羟基维生素 D (25(OH)D) 状态在预防低 BMD 和改善 BMD 方面都起着至关重要的作用。EPP是缺乏日光照射和维生素D缺乏症的自然模型,强调了终生充足的维生素D对普通人群骨骼健康的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢
CiteScore
11.40
自引率
5.20%
发文量
673
审稿时长
1 months
期刊介绍: The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信