Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.
Marta Martín-MartínJonathan Cortés-MartínMaria Isabel Tovar-GálvezJuan Carlos Sanchez-GarciaLourdes Díaz-RodríguezRaquel Rodríguez BlanquePublished in: International journal of environmental research and public health (2022)
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.
Keyphrases
- case report
- end stage renal disease
- genome wide
- newly diagnosed
- systematic review
- randomized controlled trial
- prognostic factors
- chronic kidney disease
- ejection fraction
- skeletal muscle
- gene expression
- drinking water
- early onset
- dna methylation
- peritoneal dialysis
- copy number
- social media
- adverse drug
- replacement therapy
- smoking cessation
- electronic health record