Llerena Juan, Rosselli Pablo, Aragão Amanda, Valenzuela Cristina, Bertola Debora, Mendez Yaneth, Del Pino Mariana, Calvacanti Nicolette, Thomazinho Paula, Pimenta Jeanne M, Cohen Shelda, Butt Tom, Thomaz José C, Shediac Renée, Rowell Richard, Magalhães Tatiana S P C, Kim Chong, Fano Virginia
Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Fundación Cardioinfantil, Instituto de Cardiología, Bogotá, Colombia.
Genet Med Open. 2023 Nov 18;2:100843. doi: 10.1016/j.gimo.2023.100843. eCollection 2024.
The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.
Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021. A total of 172 patients participated in the study.
Children with achondroplasia reported lower scores compared with average stature children in Quality of Life in Short Stature Youth (QoLISSY) and Pediatric Quality of Life Inventory (PedsQL) questionnaires, with the greatest impact on physical and social domains. Among adolescents, a significant percentage reported pain, 10.3% experienced pain in 3 or more sites. Adults scored lower than the reference population in the EQ-5D-5L Visual Analog Score, and a considerable portion reported moderate to severe anxiety/depression, pain or discomfort, and mobility problems. The Nottingham Health Profile (NHP) revealed poor health status in terms of energy, pain, and mobility. Medical events, particularly musculoskeletal and connective tissue disorders were reported, resulting in high medical resource utilization.
Overall, the Lifetime Impact Study for Achondroplasia study provides extensive data on health-related quality of life, psychosocial impact, and health care resource utilization among individuals with achondroplasia in Latin America. The findings confirm a significant burden of illness across multiple domains for these individuals.
软骨发育不全是身材不成比例矮小最常见的形式，其多系统临床表现和并发症可导致功能障碍和心理社会负担。软骨发育不全终身影响研究（LISA）旨在评估拉丁美洲软骨发育不全患者的健康相关生活质量和医疗资源利用情况。
2018年至2021年期间，收集了阿根廷、巴西和哥伦比亚3岁及以上个体的数据。共有172名患者参与了该研究。
与平均身高儿童相比，软骨发育不全儿童在《矮小青年生活质量问卷》（QoLISSY）和《儿童生活质量量表》（PedsQL）问卷中的得分较低，对身体和社会领域的影响最大。在青少年中，相当比例的人报告有疼痛，10.3%的人在3个或更多部位有疼痛。在EQ-5D-5L视觉模拟评分中，成年人得分低于参考人群，相当一部分人报告有中度至重度焦虑/抑郁、疼痛或不适以及行动问题。诺丁汉健康量表（NHP）显示在精力、疼痛和行动方面健康状况较差。报告了医疗事件，特别是肌肉骨骼和结缔组织疾病，导致医疗资源利用率较高。
总体而言，软骨发育不全终身影响研究提供了关于拉丁美洲软骨发育不全患者健康相关生活质量、心理社会影响和医疗保健资源利用的广泛数据。研究结果证实了这些个体在多个领域存在重大疾病负担。
