Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities

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.

• Autores: Fajardo-Jiménez, María José; Tejada-Moreno, Johanna A.; Mejía-García, Alejandro; Villegas-Lanau, Andrés; Zapata Builes, Wildeman; Restrepo, Jorge E.; Cuartas, Gina P.; Hernández López, Juan Carlos
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2022
• Institución: Universidad Cooperativa de Colombia
• Repositorio: Repositorio UCC
• OAI Identifier: oai:repository.ucc.edu.co:20.500.12494/52306
• Acceso en línea: https://doi.org/10.3390/genes13112118; https://hdl.handle.net/20.500.12494/52306
• Palabra clave: Ehlers-Danlos syndromes; genetic diseases; collagen; neuropsychological assessment; case report; Ehlers-Danlos syndromes; genetic diseases; collagen; neuropsychological assessment; case report
• Rights: openAccess
• License: http://purl.org/coar/access_right/c_abf2