Abstract
The coexistence of osteogenesis imperfecta and inflammatory arthritis has been very rarely described. Nevertheless, systemic inflammation has been found in osteogenesis imperfecta. The COL1A1 mutations may affect collagen synthesis as well as post-translational modifications, extracellular matrix interactions, and receptor-mediated signaling. Major collagen binding ligands forming the interactome, such as cytokines, cell adhesion molecules, matrix metalloproteinases, proteoglycans, and other molecules, are autoimmunity targets involved in rheumatoid arthritis pathogenesis. Cross-talk between bone remodeling and inflammatory pathways involving osteoclasts is important in osteogenesis imperfecta and rheumatoid arthritis. In osteogenesis imperfecta, the structural abnormalities and repeated traumatism, including fractures, could activate locally the innate immunity and trigger arthritis, similar to post-traumatic arthritis. Currently, the therapy of osteogenesis imperfecta is a suboptimally met need. Understanding the complex putative pathogenic links between osteogenesis imperfecta and inflammatory arthritis could hopefully lead to new therapeutic targets. Raising awareness regarding a possible association between osteogenesis imperfecta and arthritis could help improve the quality of life in these patients.
Abbreviations
- ECM:
-
Extracellular matrix
- ER:
-
Endoplasmic reticulum
- IL-1:
-
Interleukin-1
- MLBR:
-
Major ligand binding region
- OI:
-
Osteogenesis imperfecta
- RA:
-
Rheumatoid arthritis
- TNFα:
-
Tumor necrosis factor α
- TREM-1:
-
Triggering receptors expressed on myeloid cells-1
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LD has drafted the manuscript and DM, RV, and AC have critically revised it for important intellectual content. All authors have approved the final version of the submission.
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Damian, L.O., Miclea, D., Vulturar, R. et al. Osteogenesis imperfecta and rheumatoid arthritis: connective issues. Osteoporos Int 33, 2237–2239 (2022). https://doi.org/10.1007/s00198-022-06530-8
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DOI: https://doi.org/10.1007/s00198-022-06530-8