Folkestad Lars, Prakash Siddharth K, Nagamani Sandesh C S, Andersen Niels Holmark, Carter Erin, Hald Jannie Dahl, Johnson Riley J, Langdahl Bente, Perfetto Eleanor M, Raggio Cathleen, Ralston Stuart H, Sandhaus Robert A, Semler Oliver, Tosi Laura, Orwoll Eric
Department of Endocrinology, Odense University Hospital, 5000 Odense, Denmark.
Department of Clinical Research, University of Southern Denmark, 5000 Odense, Denmark.
J Bone Miner Res. 2025 Feb 2;40(2):211-221. doi: 10.1093/jbmr/zjae197.
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.
成骨不全症（OI）是一种多系统疾病，最常见的病因是编码I型胶原蛋白的基因发生致病性变异。I型胶原蛋白不仅在骨骼中大量存在，在包括皮肤、肌腱、角膜、血管和心脏在内的多种组织中也很丰富。因此，可以预期OI会影响心血管系统，并且有大量关于OI患者心血管疾病（CVD）的报道。然而，关于如何评估或管理OI患者的CVD尚无共识。为了填补这一空白，召集了一个多学科小组来制定临床指南。这项工作包括对现有文献进行系统综述，并采用改良的德尔菲法，制定一系列总结当前知识的声明。制定了14条临床建议，以指导临床医生、患者和利益相关者了解成人OI患者CVD的处理方法。本文描述了这项工作的开展方式，并提供了每条建议的背景和基本原理。此外，我们强调了知识空白，并提出了OI患者CVD未来研究的优先事项。
