PDF(Pubmed)
Abstract：
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91-100%) and a high level of agreement (range 8.5-9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia.
摘要：
软骨发育不良是最常见的骨骼发育不良类型，由成纤维细胞生长因子受体3（FGFR3）的复发性致病变异引起。软骨发育不全的管理是多方面的,需要在整个生命过程中参与多个专业。存在与软骨发育不全相关的显著未满足的需求,并且在不同国家中在提供护理方面存在实质性差异。为了应对这些挑战，欧洲软骨发育不良论坛(EAF)来自欧洲和中东软骨发育不全临床社区代表的高级临床医生和整形外科医生网络，与改善患者预后的总体目标结合在一起。EAF就软骨发育不全的管理指导原则达成了共识，为在欧洲发展最佳护理提供了基础。邀请所有EAF成员就管理的指导原则提出建议，这些数据进行了合并，然后在2020年12月的一次会议上进行了讨论。该小组匿名投票赞成列入每一项原则，要求在第一次投票中获得75％的多数票才能通过该原则。然后就协议级别进行了投票。共制定了六项指导原则,包括软骨发育不全患者一生的管理。原则的中心是由经验丰富的多学科团队对软骨发育不全进行终身管理，以预测和管理并发症，支持独立,提高生活质量。重点是怀疑有软骨发育不全治疗经验的医生，共同决策，管理的目标，获得适应性措施，使软骨发育不全患者能够进入他们的环境，以及在整个青春期和成年期持续监测的重要性。所有原则在第一次投票中获得了接受所需的75％多数票（范围91-100％）和高水平的协议（范围8.5-9.6）。软骨发育不全管理的指导原则为所有医疗保健专业人员提供，参与软骨发育不全管理的患者倡导团体和政策制定者，在发展支持软骨发育不全管理的卫生系统时，要考虑总体因素。
