Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.

IF 5.3 2区 医学
Zunera Tariq, Jake P Tinsley, Dana Carpenter, Janet K Snell-Bergeon, Viral N Shah
{"title":"Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.","authors":"Zunera Tariq, Jake P Tinsley, Dana Carpenter, Janet K Snell-Bergeon, Viral N Shah","doi":"10.1007/s11914-025-00938-x","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>Hypophosphatasia (HPP) and type 1 diabetes (T1D) are both associated with low bone turnover and increased fracture risk. In this review, our objectives were to (a) discuss results of our pilot study aimed to evaluate prevalence and clinical and radiological characteristics of HPP in adults with T1D and (b) to review literature on the use of electronic medical records (EMR) for HPP case findings.</p><p><strong>Recent findings: </strong>In our pilot study, 18 individuals had persistent low alkaline phosphatase levels (ALP) [18/1723, 1.05%]. Among 10 participants who completed the study with potential HPP and T1D, three had a pathogenic ALPL mutation (0.16% prevalence), and six had elevated serum vitamin B6. No significant differences were found in DXA-based bone density, QCT-based bone density, or Finite element-estimated bone strength between the potential HPP group, T1D adults, and controls. We did not find any study that evaluated persistent low ALP levels or potential HPP in patients with diabetes (either type 1 or type 2 diabetes). The literature reported higher prevalence of low ALP levels when electronic medical records were searched (~ 1-3%). However, prevalence of suspected HPP based on persistent low ALP levels and/or clinical signs and symptoms was around 0.5% or lower depending on sample size, methods and geographical locations. Our study suggests that EMR-based screening for HPP is feasible and may identify previously undiagnosed cases of HPP. Prevalence of potential HPP in T1D is around 1% and genetically confirmed HPP is 0.16% which is similar to reported prevalence of HPP in selected population without diabetes. Skeletal imaging and clinical presentations are not sufficient for identifying potential HPP in individuals with T1D. Given the increased fracture risk and low bone turnover typically seen in T1D, we propose that an EMR-based screening strategy could be a more effective approach for diagnosing HPP in T1D population.</p>","PeriodicalId":48750,"journal":{"name":"Current Osteoporosis Reports","volume":"23 1","pages":"42"},"PeriodicalIF":5.3000,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Osteoporosis Reports","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11914-025-00938-x","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose of review: Hypophosphatasia (HPP) and type 1 diabetes (T1D) are both associated with low bone turnover and increased fracture risk. In this review, our objectives were to (a) discuss results of our pilot study aimed to evaluate prevalence and clinical and radiological characteristics of HPP in adults with T1D and (b) to review literature on the use of electronic medical records (EMR) for HPP case findings.

Recent findings: In our pilot study, 18 individuals had persistent low alkaline phosphatase levels (ALP) [18/1723, 1.05%]. Among 10 participants who completed the study with potential HPP and T1D, three had a pathogenic ALPL mutation (0.16% prevalence), and six had elevated serum vitamin B6. No significant differences were found in DXA-based bone density, QCT-based bone density, or Finite element-estimated bone strength between the potential HPP group, T1D adults, and controls. We did not find any study that evaluated persistent low ALP levels or potential HPP in patients with diabetes (either type 1 or type 2 diabetes). The literature reported higher prevalence of low ALP levels when electronic medical records were searched (~ 1-3%). However, prevalence of suspected HPP based on persistent low ALP levels and/or clinical signs and symptoms was around 0.5% or lower depending on sample size, methods and geographical locations. Our study suggests that EMR-based screening for HPP is feasible and may identify previously undiagnosed cases of HPP. Prevalence of potential HPP in T1D is around 1% and genetically confirmed HPP is 0.16% which is similar to reported prevalence of HPP in selected population without diabetes. Skeletal imaging and clinical presentations are not sufficient for identifying potential HPP in individuals with T1D. Given the increased fracture risk and low bone turnover typically seen in T1D, we propose that an EMR-based screening strategy could be a more effective approach for diagnosing HPP in T1D population.

低磷酸酶血症与1型糖尿病:一项初步研究和文献综述。
回顾目的:低磷酸酶(HPP)和1型糖尿病(T1D)都与低骨转换和骨折风险增加有关。在这篇综述中,我们的目的是(a)讨论我们的试点研究的结果,该研究旨在评估成人T1D患者HPP的患病率、临床和放射学特征;(b)回顾有关使用电子病历(EMR)记录HPP病例发现的文献。最近的发现:在我们的初步研究中,18个人持续低碱性磷酸酶水平(ALP)[18/ 1723,1.05%]。在10名完成研究的潜在HPP和T1D参与者中,3人患有致病性ALPL突变(患病率为0.16%),6人血清维生素B6升高。在潜在HPP组、T1D成人和对照组之间,基于dxa的骨密度、基于qct的骨密度或有限元估计的骨强度没有发现显著差异。我们没有发现任何评估糖尿病患者(1型或2型糖尿病)持续低ALP水平或潜在HPP的研究。文献报道,当检索电子病历时,低ALP水平的患病率较高(~ 1-3%)。然而,基于持续低ALP水平和/或临床体征和症状的疑似HPP患病率约为0.5%或更低,具体取决于样本量、方法和地理位置。我们的研究表明,基于emr的HPP筛查是可行的,并且可以识别以前未诊断的HPP病例。T1D中潜在HPP的患病率约为1%,基因证实的HPP为0.16%,这与报告的非糖尿病人群中HPP的患病率相似。骨骼成像和临床表现不足以识别T1D患者潜在的HPP。鉴于T1D患者骨折风险增加和骨转换低,我们建议基于emr的筛查策略可能是诊断T1D人群HPP的更有效方法。
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
Current Osteoporosis Reports
Current Osteoporosis Reports ENDOCRINOLOGY & METABOLISM-
CiteScore
8.40
自引率
2.30%
发文量
44
期刊介绍: This journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of osteoporosis. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as current and future therapeutics, epidemiology and pathophysiology, and evaluation and management. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.
×
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:604180095
Book学术官方微信