Osteogenesis imperfecta and rheumatoid arthritis: is there a link?

Archives of Osteoporosis
Laura Otilia DamianAlexandra Crăciun

Abstract

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. 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. 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. 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 ...Continue Reading

References

May 20, 2005·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·Fergus E McKiernan
Jan 7, 2014·Bone·Harikiran NistalaHarald Jüppner
Jan 31, 2014·Revista brasileira de reumatologia·Blanca Elena Rios Gomes BicaMário Newton Leitão de Azevedo
Feb 10, 2016·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·G BrunettiM F Faienza
May 3, 2016·Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia·Lucie HruskovaIvan Mazura
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Sep 15, 2018·Autoimmunity Reviews·Dennis McGonagleSinisa Savic
Mar 7, 2019·Journal of Children's Orthopaedics·W H NijhuisR J Sakkers

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