Journal: Adv Ther (2024) 41:2545–2558
Authors: Svein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben‑Omran, Silvio Boero, Valérie Cormier‑Daire, Brigitte Fauroux, Encarna Guillén‑Navarro, Florian Innig, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa, Melita Irving
License and source: This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).
https://creativecommons.org/licenses/by/4.0/
Original publication available via PubMed
Summery: The following summary and key takeaways were prepared by the C4B team to support understanding of the scientific publication and are intended for informational purposes only. They do not replace the original article or professional medical advice.
Achondroplasia requires lifelong, multidisciplinary care, yet many adults are lost to follow‑up after transition from pediatric services. The European Achondroplasia Forum (EAF) developed a patient‑held checklist to empower adults to recognize red‑flag symptoms—especially for spinal stenosis and obstructive sleep apnoea—and guide primary care actions and specialist referrals. The checklist also covers routine primary‑care topics: blood pressure, hearing, weight, pain, adaptations, genetics, and psychosocial health. EAF recommends delivering the checklist during transition to adult care, using it to prompt timely investigations (e.g., spine MRI, sleep study) and referrals. The approach emphasizes patient choice, primary‑care coordination, and regionally identified expert centres to ensure ongoing, appropriate management.
Key Take Aways:
This article will provide valuable insights into:
- Many adults with achondroplasia are lost to follow‑up after pediatric transition; proactive tools are needed.
- The EAF patient‑held checklist highlights red flags for spinal stenosis and obstructive sleep apnoea and provides clear action/referral steps.
- Primary care can manage routine issues (blood pressure, hearing, weight, pain) but should refer to specialists experienced in achondroplasia when indicated.
- Delivering the checklist during transition helps empower young people to self‑manage and ensures timely specialist referrals and baseline investigations.
- Each region should identify centres of expertise for complex complications (notably spinal stenosis) and support networked care rather than expect every primary‑care clinician to be an expert.