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Title: The first European consensus on principles of management for achondroplasia
Author(s): Cormier-Daire, Valerie
AlSayed, Moeenaldeen
Ben-Omran, Tawfeg
Sousa, Sérgio Bernardo
Boero, Silvio
Fredwall, Svein O.
Guillen-Navarro, Encarna
Irving, Melita
Lampe, Christian
Maghnie, MohamadLook up in the Integrated Authority File of the German National Library
Mortier, Geert
Peijin, Zagorka
Mohnike, KlausLook up in the Integrated Authority File of the German National Library
Issue Date: 2021
Type: Article
Language: English
URN: urn:nbn:de:gbv:ma9:1-1981185920-1031414
Subjects: Achondroplasia
Guiding principles
European Achondroplasia Forum
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.
Open Access: Open access publication
License: (CC BY 4.0) Creative Commons Attribution 4.0(CC BY 4.0) Creative Commons Attribution 4.0
Sponsor/Funder: Projekt DEAL 2021
Journal Title: Orphanet journal of rare diseases
Publisher: BioMed Central
Publisher Place: London
Volume: 16
Original Publication: 10.1186/s13023-021-01971-6
Page Start: 1
Page End: 7
Appears in Collections:Medizinische Fakultät (OA)

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