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 comorbid...

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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
Idioma:
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
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openAccess
License
http://purl.org/coar/access_right/c_abf2
id COOPER2_f67719a765e1ebdf58e23484998c9c76
oai_identifier_str oai:repository.ucc.edu.co:20.500.12494/52306
network_acronym_str COOPER2
network_name_str Repositorio UCC
repository_id_str
dc.title.none.fl_str_mv Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
spellingShingle Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
Ehlers-Danlos syndromes; genetic diseases; collagen; neuropsychological assessment; case report
Ehlers-Danlos syndromes
genetic diseases; collagen
neuropsychological assessment
case report
title_short Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_full Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_fullStr Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_full_unstemmed Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_sort Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
dc.creator.fl_str_mv 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
dc.contributor.author.none.fl_str_mv 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
dc.subject.none.fl_str_mv Ehlers-Danlos syndromes; genetic diseases; collagen; neuropsychological assessment; case report
topic Ehlers-Danlos syndromes; genetic diseases; collagen; neuropsychological assessment; case report
Ehlers-Danlos syndromes
genetic diseases; collagen
neuropsychological assessment
case report
dc.subject.other.none.fl_str_mv Ehlers-Danlos syndromes
genetic diseases; collagen
neuropsychological assessment
case report
description 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.
publishDate 2022
dc.date.issued.none.fl_str_mv 2022-11-15
dc.date.accessioned.none.fl_str_mv 2023-08-03T16:56:45Z
dc.date.available.none.fl_str_mv 2023-08-03T16:56:45Z
dc.type.none.fl_str_mv Artículos Científicos
dc.type.coar.none.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.coarversion.none.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.driver.none.fl_str_mv info:eu-repo/semantics/article
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
format http://purl.org/coar/resource_type/c_2df8fbb1
status_str publishedVersion
dc.identifier.issn.none.fl_str_mv 2073-4425
dc.identifier.uri.none.fl_str_mv https://doi.org/10.3390/genes13112118
https://hdl.handle.net/20.500.12494/52306
dc.identifier.bibliographicCitation.none.fl_str_mv Fajardo-Jiménez, M.J.; Tejada-Moreno, J.A.; Mejía-García, A.; Villegas-Lanau, A.; Zapata-Builes,W.; Restrepo, J.E.; Cuartas, G.P.; Hernandez, J.C. Ehlers-Danlos: A Literature Review and Case Report in a ColombianWoman with Multiple Comorbidities. Genes 2022, 13, 2118. https://doi.org/10.3390/ genes13112118
identifier_str_mv 2073-4425
Fajardo-Jiménez, M.J.; Tejada-Moreno, J.A.; Mejía-García, A.; Villegas-Lanau, A.; Zapata-Builes,W.; Restrepo, J.E.; Cuartas, G.P.; Hernandez, J.C. Ehlers-Danlos: A Literature Review and Case Report in a ColombianWoman with Multiple Comorbidities. Genes 2022, 13, 2118. https://doi.org/10.3390/ genes13112118
url https://doi.org/10.3390/genes13112118
https://hdl.handle.net/20.500.12494/52306
dc.relation.isversionof.none.fl_str_mv https://www.mdpi.com/2073-4425/13/11/2118
dc.relation.ispartofjournal.none.fl_str_mv Genes
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spelling Fajardo-Jiménez, María JoséTejada-Moreno, Johanna A.Mejía-García, AlejandroVillegas-Lanau, AndrésZapata Builes, WildemanRestrepo, Jorge E.Cuartas, Gina P.Hernández López, Juan Carlos132023-08-03T16:56:45Z2023-08-03T16:56:45Z2022-11-152073-4425https://doi.org/10.3390/genes13112118https://hdl.handle.net/20.500.12494/52306Fajardo-Jiménez, M.J.; Tejada-Moreno, J.A.; Mejía-García, A.; Villegas-Lanau, A.; Zapata-Builes,W.; Restrepo, J.E.; Cuartas, G.P.; Hernandez, J.C. Ehlers-Danlos: A Literature Review and Case Report in a ColombianWoman with Multiple Comorbidities. Genes 2022, 13, 2118. https://doi.org/10.3390/ genes13112118Ehlers-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.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.https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000157775https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000283088https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0001114948https://orcid.org/0000-0002-7351-8738https://orcid.org/0000-0002-9200-5698https://orcid.org/0000-0001-5385-1560https://scienti.minciencias.gov.co/gruplac/jsp/visualiza/visualizagr.jsp?nro=00000000011355https://scienti.minciencias.gov.co/gruplac/jsp/visualiza/visualizagr.jsp?nro=00000000011355https://scienti.minciencias.gov.co/gruplac/jsp/visualiza/visualizagr.jsp?nro=00000000004241wildeman.zapatab@campusucc.edu.cojuanc.hernandezl@campusucc.edu.cogina.cuartasm@campusucc.edu.cohttps://scholar.google.com/citations?user=VLZxl1UAAAAJ&hl=frhttps://scholar.google.com/citations?user=fo79p5QAAAAJ&hl=frhttps://scholar.google.com/citations?hl=fr&user=xSOiCrsAAAAJ2118MDPIUniversidad Cooperativa de Colombia, Medellín, Maestría en Psicología de la SaludMaestría en Psicología de la SaludMedellínhttps://www.mdpi.com/2073-4425/13/11/2118Genes1. Yeowell, H.N.; Pinnell, S.R. The Ehlers-Danlos syndromes. Semin. Dermatol. 1993, 12, 229–240. [PubMed]2. Callewaert, B.; Malfait, F.; Loeys, B.; De Paepe, A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract. Res. Clin. Rheumatol. 2008, 22, 165–189. [CrossRef] [PubMed]3. Tinkle, B.; Castori, M.; Berglund, B.; Cohen, H.; Grahame, R.; Kazkaz, H.; Levy, H. Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. Am. J. Med. Genet. Part C Semin. Med. Genet. 2017, 175, 48–69. [CrossRef] [PubMed]4. Malfait, F.; Francomano, C.; Byers, P.; Belmont, J.; Berglund, B.; Black, J.; Bloom, L.; Bowen, J.M.; Brady, A.F.; Burrows, N.P.; et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am. J. Med. Genet. Part C Semin. Med. Genet. 2017, 175, 8–26. [CrossRef] [PubMed]5. Beighton, P.; De Paepe, A.; Steinmann, B.; Tsipouras, P.; Wenstrup, R.J. Ehlers-danlos syndromes: Revised nosology, Villefranche, 1997. Am. J. Med. Genet. 1998, 77, 31–37. [CrossRef]De Paepe, A.; Malfait, F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin. Genet. 2012, 82, 1–11. [CrossRef]7. Henderson, F.C.; Austin, C.; Benzel, E.; Bolognese, P.; Ellenbogen, R.; Francomano, C.A.; Ireton, C.; Klinge, P.; Koby, M.; Long, D.; et al. Neurological and spinal manifestations of the Ehlers-Danlos syndromes; Neurological and spinal manifestations of the Ehlers-Danlos syndromes. Am. J. Med. Genet. Part C Semin. Med. Genet. 2017, 175, 195–211. [CrossRef]8. Bulbena, A.; Pailhez, G.; Bulbena-Cabré, A.; Mallorquí-Bagué, N.; Baeza-Velasco, C. Joint hypermobility, anxiety and psychosomatics: Two and a half decades of progress toward a new phenotype. Adv. Psychosom. Med. 2015, 34, 143–157.9. Pasquini, M.; Celletti, C.; Berardelli, I.; Roselli, V.; Mastroeni, S.; Castori, M.; Biondi, M.; Camerota, F. 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Malfait, F.; Symoens, S.; Coucke, P.; Nunes, L.; De Almeida, S.; De Paepe, A. Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J. Med. Genet. 2005, 43, e36. [CrossRef]18. Leistritz, D.F.; Pepin, M.G.; Schwarze, U.; Byers, P.H. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet. Med. 2011, 13, 717–722. [CrossRef]19. Yeowell, H.; Steinmann, B. PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome. In GeneReviews; Adam, M.P., Everman, D.B., Mirzaa, G.M., Eds.; University of Washington: Seattle, WA, USA, 2000. Available online: https://www.ncbi.nlm.nih.gov/books/ NBK1462/ (accessed on 12 September 2022).20. Giunta, C.; Superti-Furga, A.; Spranger, S.; Cole, W.G.; Steinmann, B. Ehlers-Danlos syndrome type VII: Clinical features and molecular defects. JBJS 1999, 81, 225–238. 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uso EHLER DHANLOS.pdf.jpgLicencia de uso EHLER DHANLOS.pdf.jpgGenerated Thumbnailimage/jpeg13241https://repository.ucc.edu.co/bitstreams/22fcf729-e70f-4815-9bce-8edb53ad5e30/download47965e195a88bbd7694368e859bab7a6MD5720.500.12494/52306oai:repository.ucc.edu.co:20.500.12494/523062024-08-10 17:36:56.708open.accesshttps://repository.ucc.edu.coRepositorio Institucional Universidad Cooperativa de 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