Severe Early-Onset Osteoporosis and Fragility Fractures in a Young Male With Chronic Recurrent Multifocal Osteomyelitis Within the SAPHO Spectrum
- 1Department of Internal Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania
- 2Division of Endocrinology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania
Abstract
Background: Osteoporosis in young adults warrants evaluation for secondary causes. SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) is rare. Severe osteoporosis with fragility fractures as a presenting manifestation of chronic recurrent multifocal osteomyelitis/SAPHO syndrome is exceedingly rare.
Case Report: A 26-year-old man with normal body mass index, no tobacco or alcohol use, and regular physical activity presented with severe osteoporosis after low-trauma fractures of the left arm and L2 and L4 vertebrae following 5 years of back, hip, anterior chest wall pain, and axial stiffness. Initial DXA showed bone mineral density below the expected range for age (lumbar spine Z-score −3.0). Imaging demonstrated sternoclavicular marrow edema, multifocal radiotracer uptake, and bilateral sacroiliitis. Laboratory evaluation showed elevated ESR, CRP, IgA, and HLA-B27 positivity; available metabolic bone evaluation was otherwise unrevealing. Genetic testing identified an ALPK1 variant of uncertain significance. Isolated axial spondyloarthritis, infection, and malignancy were less likely because of multifocal sterile osteitis, anterior chest wall involvement, chronic course, and absence of systemic infectious or malignant features. He received adalimumab and completed 3 pamidronate infusion cycles. Through 2026 follow-up, ESR/CRP normalized on 3 checks, back pain resolved, no interim falls or fractures occurred, lumbar fractures showed radiographic healing, and repeat DXA was clinically stable.
Discussion: Chronic recurrent multifocal osteomyelitis/SAPHO syndrome may cause secondary osteoporosis through inflammation-mediated osteoclast activation and impaired bone formation.
Conclusion: Consider autoinflammatory bone disease in young adults with unexplained osteoporosis, fragility fractures, axial symptoms, anterior chest wall pain, or sacroiliitis.
Related
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- Hip Structural Analysis and Multiple Fragility Fractures: Evidence from a Large Cross-Sectional Clinical Cohort.
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BibTeX
@article{yasnain2026severe,
title = {{Severe Early-Onset Osteoporosis and Fragility Fractures in a Young Male With Chronic Recurrent Multifocal Osteomyelitis Within the SAPHO Spectrum}},
author = {Sani Yasnain and Sandhya Shanthosh Kumar and Dur E Shahwar and Saira Tanveer and Ezza Wasim and Niveditha Manivannan},
journal = {AACE Endocrinology and Diabetes},
year = {2026},
month = jul,
doi = {10.1016/j.aed.2026.07.009},
url = {https://doi.org/10.1016/j.aed.2026.07.009},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - Severe Early-Onset Osteoporosis and Fragility Fractures in a Young Male With Chronic Recurrent Multifocal Osteomyelitis Within the SAPHO Spectrum
AU - Sani Yasnain
AU - Sandhya Shanthosh Kumar
AU - Dur E Shahwar
AU - Saira Tanveer
AU - Ezza Wasim
AU - Niveditha Manivannan
PY - 2026
DA - 2026/07/29
JO - AACE Endocrinology and Diabetes
DO - 10.1016/j.aed.2026.07.009
UR - https://doi.org/10.1016/j.aed.2026.07.009
AB - Background: Osteoporosis in young adults warrants evaluation for secondary causes. SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) is rare. Severe osteoporosis with fragility fractures as a presenting manifestation of chronic recurrent multifocal osteomyelitis/SAPHO syndrome is exceedingly rare. Case Report: A 26-year-old man with normal body mass index, no tobacco or alcohol use, and regular physical activity presented with severe osteoporosis after low-trauma fractures of the left arm and L2 and L4 vertebrae following 5 years of back, hip, anterior chest wall pain, and axial stiffness. Initial DXA showed bone mineral density below the expected range for age (lumbar spine Z-score −3.0). Imaging demonstrated sternoclavicular marrow edema, multifocal radiotracer uptake, and bilateral sacroiliitis. Laboratory evaluation showed elevated ESR, CRP, IgA, and HLA-B27 positivity; available metabolic bone evaluation was otherwise unrevealing. Genetic testing identified an ALPK1 variant of uncertain significance. Isolated axial spondyloarthritis, infection, and malignancy were less likely because of multifocal sterile osteitis, anterior chest wall involvement, chronic course, and absence of systemic infectious or malignant features. He received adalimumab and completed 3 pamidronate infusion cycles. Through 2026 follow-up, ESR/CRP normalized on 3 checks, back pain resolved, no interim falls or fractures occurred, lumbar fractures showed radiographic healing, and repeat DXA was clinically stable. Discussion: Chronic recurrent multifocal osteomyelitis/SAPHO syndrome may cause secondary osteoporosis through inflammation-mediated osteoclast activation and impaired bone formation. Conclusion: Consider autoinflammatory bone disease in young adults with unexplained osteoporosis, fragility fractures, axial symptoms, anterior chest wall pain, or sacroiliitis.
SN - 3050-9157
ER -