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Archives of Osteoporosis

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01-12-2020 | Joint Pain | Case Report

Osteogenesis imperfecta and rheumatoid arthritis: is there a link?

Authors: Laura Otilia Damian, Carmen-Delia Zmarandache, Paulina Vele, Adriana Albu, Cristina Belizna, Alexandra Crăciun

Published in: Archives of Osteoporosis | Issue 1/2020

Abstract

Summary

We present the cases of a mother and daughter with osteogenesis imperfecta, also diagnosed later with rheumatoid arthritis. In our patients finding and treating the over-imposed arthritis improved the joint pain initially attributed to osteogenesis imperfecta. Exploring joint inflammation in this setting could help ease the disease burden.

Purpose

Osteogenesis imperfecta (OI) is a rare hereditary disease evolving with recurrent fractures upon minor trauma, blue sclerae, and hearing loss. Although inflammation was not generally considered a feature of the disease, systemic inflammation was recently reported in children with OI and in murine models of OI.

Method

We present the cases of a mother and a daughter with OI, without a personal or family history of autoimmune diseases, who were also diagnosed with rheumatoid arthritis seropositive for anti-cyclic citrullinated peptide autoantibodies and rheumatoid factor.

Results

The genetic tests identified in both patients a deletion in COL1A1 gene (c.3399del, p.Ala1134Profs*105), not previously reported, not present in population databases, creating a premature translational stop signal in the COL1A1 gene in the collagen I major ligand binding region 3. In our patients finding and treating the over-imposed arthritis improved the joint pain initially attributed to OI. Possible pathogenic links between OI and RA are discussed.

Conclusion

The prevalence of joint inflammation in OI is unknown and may be underestimated. As musculoskeletal involvement affects the quality of life in most OI patients, exploring this relation may help ease the disease burden.

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Title: Osteogenesis imperfecta and rheumatoid arthritis: is there a link?
Authors: Laura Otilia Damian
Carmen-Delia Zmarandache
Paulina Vele
Adriana Albu
Cristina Belizna
Alexandra Crăciun
Publication date: 01-12-2020
Publisher: Springer London
Keywords: Joint Pain
Arthritis
Rheumatoid Arthritis
Osteogenesis Imperfecta
Published in: Archives of Osteoporosis / Issue 1/2020
Print ISSN: 1862-3522
Electronic ISSN: 1862-3514
DOI: https://doi.org/10.1007/s11657-020-0681-3

At a glance: The STEP trials

Springer Medicine

Osteogenesis imperfecta and rheumatoid arthritis: is there a link?

Abstract

Summary

Purpose

Method

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Summary

Purpose

Method

Results

Conclusion

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