European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Svein Fredwall¹, Moeenaldeen AlSayed^{2

3}, Tawfeg Ben-Omran⁴, Silvio Boero⁵, Valérie Cormier-Daire⁶, Brigitte Fauroux⁷, Encarna Guillén-Navarro^{8

9}, Florian Innig¹⁰, Philip Kunkel¹¹, Christian Lampe¹², Mohamad Maghnie^{13

14}, Klaus Mohnike¹⁵, Geert Mortier¹⁶, Zagorka Pejin¹⁷, Marco Sessa¹⁸, Sérgio B Sousa^{19

20

21

22}, Melita Irving²³

Affiliations

¹ Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway. svfred@sunnaas.no.
² Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
³ Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
⁴ Division of Genetics and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.
⁵ Istituto Giannina Gaslini, Genoa, Italy.
⁶ Paris Descartes University, Paris, France.
⁷ Necker University Hospital and Paris Cité University, Paris, France.
⁸ Medical Genetics Division and Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, Murcia, Spain.
⁹ CIBERER-ISCIII, Madrid, Spain.
¹⁰ BKMF e.V., Leinestraße 2, 28199, Bremen, Germany.
¹¹ University Medical Centre Mannheim, Mannheim, Germany.
¹² Clinic of Child and Youth Medicine, University Hospital Mannheim, Mannheim, Germany.
¹³ Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
¹⁴ Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy.
¹⁵ Children's Hospital, Otto-von-Guericke-University, Magdeburg, Germany.
¹⁶ Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
¹⁷ Hôpital Necker, Paris, France.
¹⁸ Italian Association on Achondroplasia, Milan, Italy.
¹⁹ Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
²⁰ Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
²¹ University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
²² ERN-BOND, Bologna, Italy.
²³ Guy's and St Thomas' NHS Foundation Trust, London, UK.

PMID: 38748332
PMCID: PMC11213767
DOI: 10.1007/s12325-024-02880-3

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Svein Fredwall et al. Adv Ther. 2024 Jul.

. 2024 Jul;41(7):2545-2558.

doi: 10.1007/s12325-024-02880-3. Epub 2024 May 15.

Authors

Affiliations

¹ Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway. svfred@sunnaas.no.
² Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
³ Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
⁴ Division of Genetics and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.
⁵ Istituto Giannina Gaslini, Genoa, Italy.
⁶ Paris Descartes University, Paris, France.
⁷ Necker University Hospital and Paris Cité University, Paris, France.
⁸ Medical Genetics Division and Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, Murcia, Spain.
⁹ CIBERER-ISCIII, Madrid, Spain.
¹⁰ BKMF e.V., Leinestraße 2, 28199, Bremen, Germany.
¹¹ University Medical Centre Mannheim, Mannheim, Germany.
¹² Clinic of Child and Youth Medicine, University Hospital Mannheim, Mannheim, Germany.
¹³ Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
¹⁴ Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy.
¹⁵ Children's Hospital, Otto-von-Guericke-University, Magdeburg, Germany.
¹⁶ Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
¹⁷ Hôpital Necker, Paris, France.
¹⁸ Italian Association on Achondroplasia, Milan, Italy.
¹⁹ Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
²⁰ Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
²¹ University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
²² ERN-BOND, Bologna, Italy.
²³ Guy's and St Thomas' NHS Foundation Trust, London, UK.

PMID: 38748332
PMCID: PMC11213767
DOI: 10.1007/s12325-024-02880-3

Abstract

Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines. To address this, the European Achondroplasia Forum has developed a patient-held checklist to support adults with achondroplasia in managing their health. The checklist highlights key symptoms of spinal stenosis and obstructive sleep apnoea, both among the most frequent and potentially severe medical complications in adults with achondroplasia. The checklist acts as a framework to support individuals and their primary care provider in completing a routine review. General advice on issues such as blood pressure, pain, hearing, weight, adaptive aids, and psychosocial aspects are also included. The checklist provides key symptoms to be aware of, in addition to action points so that people can approach their primary care provider and be directed to the appropriate specialist, if needed. Additionally, the European Achondroplasia Forum offers some ideas on implementing the checklist during the transition from paediatric to adult care, thus ensuring the existing multidisciplinary team model in place during childhood can support in engaging individuals and empowering them to take responsibility for their own care as they move into adulthood.

Keywords: Achondroplasia; Adult; Assessment; Checklist; EAF; Follow-up; Sleep apnoea; Spinal stenosis; Transition.

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Conflict of interest statement

Svein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben Omran, Brigitte Fauroux and Christian Lampe have nothing to disclose. Silvio Boero has received payment or honoraria, support for attending meetings and/or travel from BioMarin. Valerie Cormier-Daire has received payment or honoraria, support for attending meetings and/or travel from BioMarin. Sérgio B Sousa has received payment or honoraria, support for attending meetings and/or travel and has participated in Advisory Boards for BioMarin. Encarna Guillen-Navarro has received payment or honoraria, support for attending meetings and/or travel from BioMarin. Florian Innig has received grants or contracts paid to BKMF e.V from BioMarin. Melita Irving has received grants or contracts and consulting fees from BioMarin, QED/Bridge Bio, Ascendis, Sanofi, Tyra, NovoNordisk; and payment or honoraria from BioMarin; and has participated in Advisory Boards for BioMarin and QED/BridgeBio. Philip Kunkel has received payment or honoraria, support for attending meetings and/or travel from BioMarin. Mohamad Maghnie has received consulting fees, payment or honoraria, support for attending meetings and/or travel and has participated in Advisory Boards for BioMarin. Klaus Mohnike has received consulting fees from BioMarin and NovoNordisk, payment or honoraria from Kyowa-Kirin, support for attending meetings and/or travel from BioMarin, has participated in Advisory Boards for QED and is Vice-Chair of BKMJ. Geert Mortier has received payment or honoraria and support for attending meetings and/or travel from BioMarin, and has participated in Advisory Boards for Sanofi. Zagorka Pejin has received consulting fees and payment or honoraria from Orthofix Italy and Newclip France; support for attending meetings and/or travel from Orthofix Italy, and patents planned, issued or pending with Orthofix Italy. Marco Sessa has received grants or contracts paid to AISAC OdV from BioMarin and QED.

Figures

**Fig. 1**
The EAF patient-held checklist

See this image and copyright information in PMC

References

1. Cormier-Daire V, AlSayed M, Ben-Omran T, et al. The first European consensus on principles of management for achondroplasia. Orphanet J Rare Dis. 2021;16(1):333. doi: 10.1186/s13023-021-01971-6. - DOI - PMC - PubMed
1. Savarirayan R, Ireland P, Irving M, et al. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nat Rev Endocrinol. 2022;18(3):173–189. doi: 10.1038/s41574-021-00595-x. - DOI - PubMed
1. Hoover-Fong J, Scott CI, Jones MC. Health supervision for people with achondroplasia. Pediatrics. 2020;145:e20201010. doi: 10.1542/peds.2020-1010. - DOI - PubMed
1. Irving M, AlSayed M, Arundel P, et al. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis. Orphanet J Rare Dis. 2023;18:219. doi: 10.1186/s13023-023-02795-2. - DOI - PMC - PubMed
1. Fredwall S, Steen U, de Vries O, et al. High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet J Rare Dis. 2020;15(1):123. doi: 10.1186/s13023-020-01397-6. - DOI - PMC - PubMed

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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Affiliations

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

MeSH terms

LinkOut - more resources

Full Text Sources