Department of Anatomy, Faculty of Medicine, Sabaragamuwa University of Sri Lanka, Ratnapura, Sri Lanka.
Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Orphanet J Rare Dis. 2023 Sep 8;18(1):279. doi: 10.1186/s13023-023-02884-2.
Skeletal dysplasias are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient's functionality. The worldwide prevalence of skeletal dysplasias at birth is approximately 1:5000 births. To date, disease burden and trends of skeletal dysplasias in the Sri Lankan population have not been described in any epidemiological study. Our aim was to evaluate the burden and the current trends in hospital admissions for skeletal dysplasias in the Sri Lankan population. A retrospective evaluation of hospital admissions for skeletal dysplasia during 2017-2020 was performed using population-based data from the eIMMR database which covers government hospitals in the entire country. The trends in hospital admissions for skeletal dysplasias by calendar year, age, and types of skeletal dysplasia were described using appropriate summary statistics.
Respective crude admission rates of skeletal dysplasias in the years 2017, 2018, 2019 and 2020 were 5.2, 8.1, 8.0, and 6.5 per million population. A female predominance (1.4:1) was noted during the studied period. Of all reported cases the majority (n = 268; 44.2%) were children less than 4 years. Each year, 0-4 years age group represented 40-47% of the total hospital admissions. More than half of the cases were reported from Colombo (28.1%) and Kandy (25.4%) districts combined. 60% of cases were diagnosed as osteogenesis imperfecta (OI). Rising trends were observed in the hospital admissions for osteogenesis imperfecta, achondroplasia and osteopetrosis, while other skeletal dysplasia types collectively showed a relatively stable trend.
This preliminary study revealed a female predominance of skeletal dysplasias and a relatively high admission rate of osteogenesis imperfecta in the Sri Lankan population. A distinct trend was not visible in the studied years probably due to the impact on hospital services due to COVID- Pandemic. Future research on the healthcare burden on families affected by skeletal dysplasia is required to better understand the overall cost of care and identify therapies that reduce admission rates. This study highlights the value of analysing population-based data on rare diseases to improve healthcare in low-resource countries.
骨骼发育不良是一种软骨-骨组织的罕见疾病，会对患者的功能产生重大影响。全世界每 5000 名新生儿中就有 1 名患有骨骼发育不良。迄今为止，斯里兰卡人群中骨骼发育不良的疾病负担和趋势尚未在任何流行病学研究中描述。我们的目的是评估斯里兰卡人群中骨骼发育不良的负担和当前住院趋势。使用涵盖全国政府医院的基于人群的 eIMMR 数据库中的数据，对 2017-2020 年骨骼发育不良住院的情况进行了回顾性评估。使用适当的汇总统计数据描述了按历年、年龄和骨骼发育不良类型划分的骨骼发育不良住院的趋势。
2017 年、2018 年、2019 年和 2020 年的骨骼发育不良粗入院率分别为每百万人口 5.2、8.1、8.0 和 6.5。在研究期间，女性占优势（1.4:1）。在所报告的所有病例中，大多数（n=268；44.2%）为 4 岁以下儿童。每年，0-4 岁年龄组占总住院人数的 40-47%。来自科伦坡（28.1%）和康提（25.4%）地区的病例加起来超过一半。60%的病例被诊断为成骨不全症（OI）。成骨不全症、软骨发育不全症和石骨症的住院人数呈上升趋势，而其他骨骼发育不良类型则呈相对稳定的趋势。
这项初步研究表明，斯里兰卡人群中骨骼发育不良以女性为主，成骨不全症的入院率相对较高。在研究期间，由于 COVID-19 大流行对医院服务的影响，可能没有明显的趋势。需要对受骨骼发育不良影响的家庭的医疗保健负担进行进一步研究，以更好地了解总体护理成本，并确定降低入院率的疗法。这项研究强调了分析罕见疾病人群数据以改善资源匮乏国家医疗保健的价值。
