ESPEYB20 3. Bone, Growth Plate and Mineral Metabolism Advances in Clinical Practice (8 abstracts)
3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
Maghnie M , Semler O , Guillen-Navarro E , Selicorni A , Heath KE , Haeusler G , Hagenäs L , Merker A , Leiva-Gea A , González VL , Raimann A , Rehberg M , Santos-Simarro F , Ertl DA , Gregersen PA , Onesimo R , Landfeldt E , Jarrett J , Quinn J , Rowell R , Pimenta J , Cohen S , Butt T , Shediac R , Mukherjee S & Mohnike K
Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. PMID: 36922864. https://pubmed.ncbi.nlm.nih.gov/36922864/
In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.
Commentary: Individuals with achondroplasia present with a range of clinical features. The retrospective, observational LIAISE study was designed to quantify the impact of achondroplasia across the age spectrum within Europe by assessing the clinical and surgical burden, healthcare resource use and QoL of affected individuals. It collected demographic, clinical and healthcare resource use data from medical records in 13 sites across six European countries. Descriptive statistics or event rates per 100 person-years were calculated and compared across age groups as well as by the history of limb lengthening. Patient-reported outcomes (quality of life [QoL], pain, functional independence, work productivity and activity impairments) were evaluated using questionnaires at the time of enrolment. An exploratory analysis investigated correlations between height (z-score or centimetres) and patient-reported outcomes.
Overall, 186 study patients were included (mean age 21.7±17.3 years, range 5.0–84.4). At least one complication or surgery was reported for 94.6% and 72.0% of patients, respectively, at a rate of 66.6 and 21.5 events per 100 person-years. Diverse medical and surgical complications were reported for all ages in a bimodal distribution, occurring more frequently in the youngest and oldest age groups. A total of 40 patients had previously undergone limb lengthening (capped at 20% per study protocols). The most frequent surgery types varied by age, in line with complication profiles. The most common types of surgeries were middle ear procedures (28.0%) tonsillectomies/adenoidectomies (26.3%), and brainstem decompression surgeries (14.0%). Healthcare resource use was high across all age groups, especially among the youngest and oldest individuals, and did not differ substantially by history of limb lengthening. Compared to general population values, patients reported impaired QoL, particularly for physical functioning domains. In addition, patients reported difficulty carrying out daily activities independently and pain starting in childhood. Patient height correlated with multiple patient-reported outcomes.
These findings show that individuals with achondroplasia experience a range of severe complications throughout their lives, resulting in a high level of healthcare resource use and reduced QoL. Importantly, LIAISE revealed varied approaches to achondroplasia management and highlights the value of an international consensus on management practices to ensure high-quality care for all patients across geographical regions.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more