Dilemmas in the Management of Osteoporosis in Younger Adults

Herath, Madhuni; Cohen, Adi; Ebeling, Peter R.; Milat, Frances

doi:10.1002/jbm4.10594

Cited by 15 publications

(16 citation statements)

References 172 publications

(185 reference statements)

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“…A BMD-specific GS can potentially help identify inherited very low BMD, and thus, high fracture risk, in younger individuals without clinical risk factors. Despite limited research in the management of osteoporosis in younger adults, it seems likely that these individuals represent a patient group, where diagnosis and early treatment may impact positively the quality of life [ 39 ]. Furthermore, these young patients are likely to be missed using standard clinical stratification tools.…”

Section: Discussionmentioning

confidence: 99%

A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density

Therkildsen¹,

Rohde²,

Nissen³

et al. 2023

Osteoporos Int

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Summary The role of integrating genomic scores (GSs) needs to be assessed. Adding a GS to recommended stratification tools does not improve the prediction of very low bone mineral density. However, we noticed that the GS performed equally or above individual risk factors in discrimination. Purpose We aimed to investigate whether adding a genomic score (GS) to recommended stratification tools improves the discrimination of participants with very low bone mineral density (BMD). Methods BMD was measured in three thoracic vertebrae using CT. All participants provided information on standard osteoporosis risk factors. GSs and FRAX scores were calculated. Participants were grouped according to mean BMD into very low (<80 mg/cm 3 ), low (80–120 mg/cm 3 ), and normal (>120 mg/cm 3 ) and according to the Bone Health and Osteoporosis Foundation recommendations for BMD testing into an “indication for BMD testing” and “no indication for BMD testing” group. Different models were assessed using the area under the receiver operating characteristics curves (AUC) and reclassification analyses. Results In the total cohort ( n =1421), the AUC for the GS was 0.57 (95% CI 0.52–0.61) corresponding to AUCs for osteoporosis risk factors. In participants without indication for BMD testing, the AUC was 0.60 (95% CI 0.52–0.69) above or equal to AUCs for osteoporosis risk factors. Adding the GS to a clinical risk factor (CRF) model resulted in AUCs not statistically significant from the CRF model. Using probability cutoff values of 6, 12, and 24%, we found no improved reclassification or risk discrimination using the CRF-GS model compared to the CRF model. Conclusion Our results suggest adding a GS to a CRF model does not improve prediction. However, we noticed that the GS performed equally or above individual risk factors in discrimination. Clinical risk factors combined showed superior discrimination to individual risk factors and the GS, underlining the value of combined CRFs in routine clinics as a stratification tool. Supplementary Information The online version contains supplementary material available at 10.1007/s00198-023-06857-w.

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Section: Discussionmentioning

confidence: 99%

A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density

Therkildsen¹,

Rohde²,

Nissen³

et al. 2023

Osteoporos Int

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“…The risk of developing osteoporosis rises with age and primarily affects postmenopausal women and older men. However, it can rarely manifest in young adults, specifically premenopausal women and men up to 49 years of age 27,28 . In these cases, osteoporosis typically arises within the context of chronic diseases or the use of certain drugs that affect bone metabolism.…”

Section: Osteoporosismentioning

confidence: 99%

“…In these cases, osteoporosis typically arises within the context of chronic diseases or the use of certain drugs that affect bone metabolism. Examples of such drugs include those employed in the treatment of ARDs and GCs 28 .…”

Section: Osteoporosismentioning

confidence: 99%

“…However, DXA has certain limitations in patients with ARDs. These individuals may experience fragility fractures despite having normal areal bone mineral density (aBMD) as measured by DXA 28,38 . Furthermore, diseases affecting the spine can result in falsely normal bone density measurements due to degenerative arthritis lesions or spinal arthropathies with spinal column involvement.…”

Section: Osteoporosismentioning

confidence: 99%

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Bone Disease in Autoimmune Rheumatic Diseases Among Young Adults: A Comprehensive Review

Tatsi,

Tournis

2024

JRPMS

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Autoimmune rheumatic diseases (ARDs) encompass a diverse array of conditions with varied clinical manifestations affecting multiple body systems. Among young patients with ARD, the most common bone disorders are avascular necrosis (AVN) and osteoporosis. ARDs and glucocorticoid use pose major risk factors for AVN and osteoporosis in this population. Unexplained hip pain should raise suspicion of AVN, warranting further investigation, such as MRI. While traditionally associated with older individuals, osteoporosis should not be overlooked in young adults with ARDs. Assessing fracture risk and implementing appropriate management strategies are crucial. Early recognition and tailored treatment are essential for preserving quality of life. ARDs and glucocorticoid use increase osteoporosis risk. Premenopausal women with conditions like rheumatoid arthritis may experience a 17.1% decrease in femoral neck BMD. Similarly, patients with spondyloarthritis exhibit high osteoporosis rates. Diagnosing and managing osteoporosis in young adults remain challenging, highlighting the importance of fracture prevention. Guidelines offer recommendations for preventing, monitoring, and treating glucocorticoid-induced osteoporosis. Considering prevention, early recognition, and appropriate treatment are vital during the clinical evaluation of young adults. Addressing these aspects improves outcomes and mitigates skeletal comorbidity in ARDs.

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“…Osteoporosis in younger adults (premenopausal women and men aged less than 50 years) is often challenging to diagnose and treat due to several factors, including a poor understanding of the underlying pathophysiology, lack of unified guidelines for diagnosis and management, and limited research in this area. ( 1 ) Although many such cases are due to underlying primary or secondary causes, some patients present without an identifiable cause, termed idiopathic osteoporosis (IOP), which has been associated with abnormal bone microarchitecture. ( 2 ) It is thought that this patient cohort may have a yet uncharacterized primary genetic basis, with previous molecular screening of young osteoporotic adults revealing several rare known or novel pathogenic gene variants.…”

Section: Introductionmentioning

confidence: 99%

A Novel RUNX1 Genetic Variant Identified in a Young Male with Severe Osteoporosis

et al. 2023

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This case describes a young man with an unusual cause of severe osteoporosis and markedly deranged bone microarchitecture resulting in multiple fractures. A potentially pathogenic germline variant in the runt‐related transcription factor 1 (RUNX1) gene was discovered by a focused 51‐gene myeloid malignancy panel during investigation for his unexplained normochromic normocytic anemia. Further bone‐specific genetic testing and a pedigree analysis were declined by the patient. Recent experimental evidence demonstrates that RUNX1 plays a key role in the regulation of osteogenesis and bone homeostasis during skeletal development, mediated by the bone morphogenic protein and Wnt signaling pathways. Therefore, rarer causes of osteoporosis, including those affecting bone formation, should be considered in young patients with multiple unexpected minimal trauma fractures. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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Dilemmas in the Management of Osteoporosis in Younger Adults

Cited by 15 publications

References 172 publications

A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density

A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density

Bone Disease in Autoimmune Rheumatic Diseases Among Young Adults: A Comprehensive Review

A Novel RUNX1 Genetic Variant Identified in a Young Male with Severe Osteoporosis

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