Journal: Orphanet Journal of Rare Diseases 2023 18:56
Authors: Mohamad Maghnie, Oliver Semler, Encarna Guillen‑Navarro, Angelo Selicorni, Karen E. Heath et al.
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.
The LIAISE study analyzed medical records and questionnaires from 186 people with achondroplasia across six European countries to measure lifetime health, surgeries, healthcare use, quality of life (QoL), pain, and functional independence. Nearly all participants experienced medical or surgical complications (94.6%) and most had surgery (72%), with complication and resource-use peaks in early childhood and older adulthood. Common issues included ENT problems, spinal deformities/stenosis, pain, and orthopaedic conditions. Patients reported reduced QoL—especially physical functioning—pain beginning in childhood, and difficulties with daily activities and work. Height (absolute and z-score) showed modest positive correlations with some QoL and functional measures in children. Findings underscore substantial lifelong multisystem burden and high healthcare needs for people with achondroplasia.
Key Take Aways:
This article will provide valuable insights into:
- 94.6% had ≥1 complication; event rate 66.6 per 100 person-years; complications peak in childhood and after age 40.
- 72% underwent surgery (common: middle ear, tonsil/adenoid, brainstem decompression, limb lengthening).
- Healthcare use (visits, exams, hospital stays, meds) is high across the lifespan, especially very young and older patients.
- Patients report lower QoL—most impaired in physical domains—plus persistent pain and reduced independence.
- Taller height / higher height z-score in children modestly correlates with better QoL and functional independence (exploratory finding).