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Background <p>Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in genes involved in type I collagen production. We report a 27-year-old female with genetically confirmed OI type XI (OI-XI) who experienced a delayed diagnosis of seropositive rheumatoid arthritis (RA), resulting in irreversible deformities.</p> Case presentation <p>The patient had multiple congenital contractures and became wheelchair-dependent in early childhood. She received only one course of bone protection therapy in her lifetime. Two years prior to presentation, she developed bilateral hand pain, stiffness, and progressive deformities. The diagnosis of RA was confirmed based on clinical features, imaging, and high titers of anti-cyclic citrullinated peptide (anti-CCP) antibodies. Genetic analysis revealed a homozygous FKBP10 mutation (c.391 + 4&#xa0;A &gt; T), confirming OI-XI. Treatment with methotrexate, folic acid, and vitamin D led to symptom improvement and stabilization of deformities.</p> Conclusions <p>This is the first reported case of RA in a patient with genetically confirmed OI-XI. The case underscores the importance of early detection and treatment of RA in individuals with OI to prevent irreversible joint damage.</p> Clinical trial number <p>Not applicable.</p>

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Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月13日

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  • Anas Manhal,
  • Jamal Abdallah,
  • Mahmoud M. Qouqas,
  • Ahmad Waleed,
  • Layth Al-Karaja,
  • Noor Alhuda Sawalha,
  • Laith Alamlih

摘要

Background

Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in genes involved in type I collagen production. We report a 27-year-old female with genetically confirmed OI type XI (OI-XI) who experienced a delayed diagnosis of seropositive rheumatoid arthritis (RA), resulting in irreversible deformities.

Case presentation

The patient had multiple congenital contractures and became wheelchair-dependent in early childhood. She received only one course of bone protection therapy in her lifetime. Two years prior to presentation, she developed bilateral hand pain, stiffness, and progressive deformities. The diagnosis of RA was confirmed based on clinical features, imaging, and high titers of anti-cyclic citrullinated peptide (anti-CCP) antibodies. Genetic analysis revealed a homozygous FKBP10 mutation (c.391 + 4 A > T), confirming OI-XI. Treatment with methotrexate, folic acid, and vitamin D led to symptom improvement and stabilization of deformities.

Conclusions

This is the first reported case of RA in a patient with genetically confirmed OI-XI. The case underscores the importance of early detection and treatment of RA in individuals with OI to prevent irreversible joint damage.

Clinical trial number

Not applicable.