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e-Article

Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
Document Type
Report
Source
Genes. November 2022, Vol. 13 Issue 11
Subject
Colombia
Language
English
ISSN
2073-4425
Abstract
Author(s): María José Fajardo-Jiménez [1]; Johanna A. Tejada-Moreno [2]; Alejandro Mejía-García [2]; Andrés Villegas-Lanau [3]; Wildeman Zapata-Builes [4]; Jorge E. Restrepo [5]; Gina P. Cuartas [6]; Juan C. Hernandez (corresponding [...]
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients.