Article, 2024

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood

Calcified Tissue International, ISSN 1432-0827, 0171-967X, Pages 1-10, 10.1007/s00223-024-01236-x

Contributors

Hald, Jannie Dahl 0000-0002-7907-3792 (Corresponding author) [1] Langdahl, Bente [1] [2] Folkestad, Lars 0000-0001-6266-6439 [3] [4] Wekre, Lena Lande [5] Johnson, Riley [6] Nagamani, Sandesh C. S. [7] [8] Raggio, Cathleen L [9] Ralston, Stuart H D 0000-0002-2804-7586 [10] [11] Semler, Oliver 0000-0003-0029-7556 [12] Tosi, Laura Lowe 0000-0001-8827-9883 [13] Orwoll, Eric S 0000-0002-8520-7355 [6]

Affiliations

  1. [1] Aarhus University Hospital
    2. [NORA names: Central Denmark Region; Hospital; Denmark; Europe, EU; Nordic; OECD];
  2. [2] Aarhus University
    3. [NORA names: AU Aarhus University; University; Denmark; Europe, EU; Nordic; OECD];
  3. [3] Odense University Hospital
    4. [NORA names: Region of Southern Denmark; Hospital; Denmark; Europe, EU; Nordic; OECD];
  4. [4] University of Southern Denmark
    5. [NORA names: SDU University of Southern Denmark; University; Denmark; Europe, EU; Nordic; OECD];
  5. [5] Sunnaas sykehus
    6. [NORA names: Norway; Europe, Non-EU; Nordic; OECD];

Abstract

Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual. We found evidence to suggest that OI is a systemic disease which involves not only the skeleton, but also the cardiopulmonary and gastrointestinal system, soft tissues, tendons, muscle, and joints, hearing, eyesight, dental health, and women’s health in OI and potentially adds negative affect to health-related quality of life. We aim to guide clinicians as well as draw attention to obvious knowledge gaps and the need for further research in adult OI

Keywords

I collagen, abnormalities, adult population, adulthood, adults, age, aged individuals, attention, bone fragility, cardiopulmonary, challenges, clinicians, dental, dental health, disease, effect, effect of OI, evidence, eyesight, fragility, gap, gastrointestinal system, health, health-related quality, health-related quality of life, hearing, imperfecta, individuals, joints, knowledge, knowledge gaps, life, literature, manifestations, muscle, narrative review, non-skeletal manifestations, osteogenesis, osteogenesis imperfecta, pediatric population, population, post-translational modifications, post-translational modifications of type I collagen, production, quality, quality of life, research, review, skeleton, soft tissue, structure, system, systemic disease, tendon, tissue, type I collagen, women, women's health

Funders

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases
  • National Center for Advancing Translational Sciences
  • National Institute of Mental Health
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • National Institute of Dental and Craniofacial Research

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