Virgen de las Nieves University Hospital, 18014 Granada, Spain.
Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.
Int J Environ Res Public Health. 2022 Feb 7;19(3):1870. doi: 10.3390/ijerph19031870.
Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers-Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.
关节型弹力过度综合征（aEDS）是一种罕见的遗传性疾病，其特征为严重的全身性关节过度活动、双侧先天性髋关节脱位、皮肤过度伸展性、肌肉张力减退和轻度畸形特征。它是一种常染色体显性结缔组织疾病，导致胶原缺陷，与 COL1A1 或 COL1A2 两个基因相关。全世界仅发表了约 42 例病例。目前的治疗方法是对症治疗，重点是提高这些患者的生活质量，因为尚无治愈方法。本次综述的主要目的是更新科学文献中关于关节型弹力过度综合征的信息。综述报告根据系统评价和 Meta 分析的首选报告项目（PRISMA）综述方案的标准进行，通过搜索 Orphanet、OMIM、PubMed 和 Scopus 以及免费资源进行检索。共分析了 20 篇文章，经过分析，提供了一份更新的报告，旨在为未来的研究路线奠定坚实的起点。
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