The first European consensus on principles of management for achondroplasia

Orphanet Journal of Rare Diseases

Klaus Mohnike¹  Valerie Cormier-Daire²  Christian Lampe³  Silvio Boero⁴  Melita Irving⁵  Geert Mortier⁶  Moeenaldeen AlSayed⁷  Mohamad Maghnie⁸  Tawfeg Ben-Omran⁹  Encarna Guillen-Navarro^1,10  Sérgio Bernardo de Sousa^1,11  Zagorka Peijin^1,12  Svein O. Fredwall^1,13 

[1] Central German Competence Network for Rare Diseases (MKSE), Dept of Pediatrics, University Hospital, Otto-von-Guericke University, Magdeburg, Germany;Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Paris Centre University, Paris, France;Clinic of Neuropediatrics, Epileptology and Social Pediatrics, University Hospital Giessen and Marburg, Giessen, Germany;Department for Limb Lengthening and Axial Correction, Istituto Giannina Gaslini, Genoa, Italy;Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK;Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium;Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia;Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia;Department of Pediatrics, School of Medicine IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy;Division of Genetic and Genomic Medicine, Department of Medical Genetic, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar;Medical Genetics Section. Department of Pediatrics, Virgen de la Arrixaca University Hospital, IMIB, University of Murcia-UMU, CIBERER-ISCIII, Murcia, Spain;Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal;Faculty of Medicine, University Clinic of Genetics, Universidade de Coimbra, Coimbra, Portugal;Orthopaedic Surgery and Paediatric Trauma, Hôpital Necker-Enfants Malades, Paris, France;TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway;

关键词: Achondroplasia;    Guiding principles;    European Achondroplasia Forum;   

DOI  :  10.1186/s13023-021-01971-6

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY