Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI. However, there is no consensus on how CVD in OI should be assessed or managed. To fill this gap, a multidisciplinary group was convened to develop clinical guidance. The work included a systematic review of the available literature and, using a modified Delphi approach, the development of a series of statements summarizing current knowledge. Fourteen clinical recommendations were developed to guide clinicians, patients, and stakeholders about an approach for CVD in adults with OI. This paper describes how the work was conducted and provides the background and rationale for each recommendation. Furthermore, we highlight knowledge gaps and suggest research priorities for the future study of CVD in OI.
Keywords: cardiovascular disease; collagen type 1; delphi process; osteogenesis imperfecta; systematic review.
Osteogenesis imperfecta (OI) is a disorder that affects many parts of the body due to defects in type I collagen, a protein crucial for bones, skin, tendons, eyes, blood vessels, and the heart. Because of these widespread effects, people with OI may be more likely to have cardiovascular disease (CVD). However, there’s no clear guideline on how to check for or treat CVD in these patients. To address this, experts from various fields came together to create clinical guidelines. They reviewed existing information and used a collaborative approach to develop 14 recommendations to help doctors, patients, and others manage CVD in adults with OI. This paper details the process of creating these guidelines, explains each recommendation, and points out areas where more research is needed.
© The Author(s) [2024]. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research.