C. Panicucci , N. Brolatti , S. Casalini , G. Coratti , M. Pedemonte , F. Ricci , T. Mongini , V. Sansone , M. Filosto , L. Bello , E. Pegoraro , I. Bruno , L. Verriello , G. Ricci , A. D'Amico , E. Mercuri , M. Maghnie , N. Di Iorgi , C. Bruno , working group ITASMAC
{"title":"146P Investigation of bone health in a large cohort of naïve SMA patients","authors":"C. Panicucci , N. Brolatti , S. Casalini , G. Coratti , M. Pedemonte , F. Ricci , T. Mongini , V. Sansone , M. Filosto , L. Bello , E. Pegoraro , I. Bruno , L. Verriello , G. Ricci , A. D'Amico , E. Mercuri , M. Maghnie , N. Di Iorgi , C. Bruno , working group ITASMAC","doi":"10.1016/j.nmd.2024.07.053","DOIUrl":null,"url":null,"abstract":"<div><div>SMA patients have a high risk of osteoporosis although limited data are available, and bone fragility management is not fully integrated in the standard of care. This multicenter, retrospective, cross-sectional study aims to evaluate fracture prevalence and bone mineral density (BMD Z-score) in naïve SMA patients included in the ITASMAC registry data, by using hospital charts and dual-energy X-ray absorptiometry (DXA) measurements. Data were available in 148 SMA patients from 11 National referral center for SMA (6.1% SMA1, 42.6% SMA2, and 51.3% SMA3). Overall, 46/148 (31.1%) patients presented at least 1 fragility fracture, 2/9 SMA1 (22.2%), 20/63 SMA2 (32.3%), and 24/76 SMA3 (31.6%), at a mean age of 12 years for SMA1 and SMA2, and 31 for SMA3. Long bone fractures were the most prevalent (93%), and only 4/46 (9%) of fractured patients were treated with bisphosphonates. DXA scans before the first fracture were available in 82 patients, performed at median age of 5 years for SMA1 (n= 3), 15 for SMA2 (n=37), and 27 for SMA3 (n=42). Pathologic BMD Z-scores were observed in 3/3 (100%) SMA1, 35/37 (95%) SMA2, and 21/42 (50%) SMA3. The lowest median BMD Z-scores were registered at femur (-2.9), followed by total body (-2.5) and lumbar spine (-2.2). In conclusion, we detected an overall fractures prevalence of 30%, without significant differences between SMA types. BMD Z-scores were significantly lower in SMA1 and SMA2 compared to SMA3. This baseline analysis of bone health in naïve SMA patients, provides a starting point for longitudinal studies to determine SMA treatment effects on bone in this condition.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.44"},"PeriodicalIF":2.7000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuromuscular Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960896624002177","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
SMA patients have a high risk of osteoporosis although limited data are available, and bone fragility management is not fully integrated in the standard of care. This multicenter, retrospective, cross-sectional study aims to evaluate fracture prevalence and bone mineral density (BMD Z-score) in naïve SMA patients included in the ITASMAC registry data, by using hospital charts and dual-energy X-ray absorptiometry (DXA) measurements. Data were available in 148 SMA patients from 11 National referral center for SMA (6.1% SMA1, 42.6% SMA2, and 51.3% SMA3). Overall, 46/148 (31.1%) patients presented at least 1 fragility fracture, 2/9 SMA1 (22.2%), 20/63 SMA2 (32.3%), and 24/76 SMA3 (31.6%), at a mean age of 12 years for SMA1 and SMA2, and 31 for SMA3. Long bone fractures were the most prevalent (93%), and only 4/46 (9%) of fractured patients were treated with bisphosphonates. DXA scans before the first fracture were available in 82 patients, performed at median age of 5 years for SMA1 (n= 3), 15 for SMA2 (n=37), and 27 for SMA3 (n=42). Pathologic BMD Z-scores were observed in 3/3 (100%) SMA1, 35/37 (95%) SMA2, and 21/42 (50%) SMA3. The lowest median BMD Z-scores were registered at femur (-2.9), followed by total body (-2.5) and lumbar spine (-2.2). In conclusion, we detected an overall fractures prevalence of 30%, without significant differences between SMA types. BMD Z-scores were significantly lower in SMA1 and SMA2 compared to SMA3. This baseline analysis of bone health in naïve SMA patients, provides a starting point for longitudinal studies to determine SMA treatment effects on bone in this condition.
期刊介绍:
This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).
The Editors welcome original articles from all areas of the field:
• Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery).
• Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics.
• Studies of animal models relevant to the human diseases.
The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.