Osteogenesis imperfecta and rheumatoid arthritis : is there a link?
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.
| Errataetall: |
CommentIn: Osteoporos Int. 2022 Oct;33(10):2233-2235. - PMID 35984462 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:15 |
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| Enthalten in: |
Archives of osteoporosis - 15(2020), 1 vom: 06. März, Seite 40 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Damian, Laura Otilia [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 05.10.2020 Date Revised 27.10.2022 published: Electronic CommentIn: Osteoporos Int. 2022 Oct;33(10):2233-2235. - PMID 35984462 Citation Status MEDLINE |
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| doi: |
10.1007/s11657-020-0681-3 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM307329895 |
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| 500 | |a CommentIn: Osteoporos Int. 2022 Oct;33(10):2233-2235. - PMID 35984462 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Anti-citrullinated peptide antibodies | |
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| 650 | 4 | |a Fractures | |
| 650 | 4 | |a Osteogenesis imperfecta | |
| 650 | 4 | |a Rheumatoid arthritis | |
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| 700 | 1 | |a Belizna, Cristina |e verfasserin |4 aut | |
| 700 | 1 | |a Crăciun, Alexandra |e verfasserin |4 aut | |
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