4.6 Article

Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia

期刊

FRONTIERS IN NEUROSCIENCE
卷 16, 期 -, 页码 -

出版社

FRONTIERS MEDIA SA
DOI: 10.3389/fnins.2022.818750

关键词

Friedreich Ataxia (FRDA); bone mineral density-BMD; fractures-bone; bone health; mitochondria

资金

  1. NIH grant from the National Institute of Diabetes and Digestive and Kidney Disease [K23DK102659]
  2. NIH grant from the National Heart, Lung, and Blood Institute [R01HL149722]
  3. Friedreich's Ataxia Research Alliance
  4. Friedreich's Ataxia Research Alliance Post-Doctoral Fellowship Grant, from the Friedreich's Ataxia Research Alliance [GRT-00000432]
  5. National Institutes of Health [F32DK128970]
  6. National Center for Research Resources
  7. National Center for Advancing Translational Sciences, National Institutes of Health [5UL1TR001878-05]

向作者/读者索取更多资源

FRDA patients have lower bone mineral density compared to healthy controls, with lower BMD correlating with disease severity in adults. Children with FRDA also have lower BMD. The survey revealed that screening for low BMD in FRDA patients is underutilized.
IntroductionFriedreich's Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the frataxin (FXN) gene. Impaired bone health is a complication of other disorders affecting mobility, but there is little information regarding bone health in FRDA. MethodsDual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children's Hospital of Philadelphia (CHOP). Disease outcomes, including the modified FRDA Rating Scale (mFARS), were abstracted from the FRDA Clinical Outcomes Measures Study (FACOMS), a longitudinal natural history study. A survey regarding bone health and fractures was sent to individuals in FACOMS-CHOP. ResultsAdults with FRDA (n = 24) have lower mean whole body (WB) (-0.45 vs. 0.33, p = 0.008) and femoral neck (FN) (-0.71 vs. 0.004, p = 0.02) aBMD Z-scores than healthy controls (n = 24). Children with FRDA (n = 10) have a lower WB-less-head (-2.2 vs. 0.19, p < 0.0001) and FN (-1.1 vs. 0.04, p = 0.01) aBMD than a reference population (n = 30). In adults, lower FN aBMD correlated with functional disease severity, as reflected by mFARS (R = -0.56, p = 0.04). Of 137 survey respondents (median age 27 y, 50% female), 70 (51%) reported using wheelchairs as their primary ambulatory device: of these, 20 (29%) reported a history of potentially pathologic fracture and 11 (16%) had undergone DXA scans. ConclusionsLow aBMD is prevalent in FRDA, but few of even the highest risk individuals are undergoing screening. Our findings highlight potential missed opportunities for the screening and treatment of low aBMD in FRDA.

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