Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review

Marta Martín-Martín, Jonathan Cortés-Martín, Maria Isabel Tovar-Gálvez, Juan Carlos Sánchez-García, Lourdes Díaz-Rodríguez and Raquel Rodríguez-Blanque
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Marta Martín-Martín: Virgen de las Nieves University Hospital, 18014 Granada, Spain
Jonathan Cortés-Martín: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Maria Isabel Tovar-Gálvez: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Juan Carlos Sánchez-García: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Lourdes Díaz-Rodríguez: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Raquel Rodríguez-Blanque: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain

IJERPH, 2022, vol. 19, issue 3, 1-11

Abstract: 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.

Keywords: Ehlers–Danlos syndrome (EDS); EDS arthrochalasia; rare disease; connective tissue; congenital anomaly; hypermobility; systematic review (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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