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Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV

(1) Background: The vascular type of Ehlers–Danlos syndrome (vEDS) is a rare genetic connective tissue disorder caused by pathogenic variants in the COL3A1 gene that result in arterial and organ fragility and premature death. We present five cases of vEDS that highlight the diagnosis and treatment c...

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Autores principales: Alqahtani, Mubarak, Claudinot, Amandine, Gaudry, Marine, Bartoli, Axel, Barral, Pierre Antoine, Vidal, Vincent, Boyer, Louis, Busa, Tiffany, Cadour, Farah, Jacquier, Alexis, De Masi, Mariangela, Bal, Laurence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658028/
https://www.ncbi.nlm.nih.gov/pubmed/36362573
http://dx.doi.org/10.3390/jcm11216344
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author Alqahtani, Mubarak
Claudinot, Amandine
Gaudry, Marine
Bartoli, Axel
Barral, Pierre Antoine
Vidal, Vincent
Boyer, Louis
Busa, Tiffany
Cadour, Farah
Jacquier, Alexis
De Masi, Mariangela
Bal, Laurence
author_facet Alqahtani, Mubarak
Claudinot, Amandine
Gaudry, Marine
Bartoli, Axel
Barral, Pierre Antoine
Vidal, Vincent
Boyer, Louis
Busa, Tiffany
Cadour, Farah
Jacquier, Alexis
De Masi, Mariangela
Bal, Laurence
author_sort Alqahtani, Mubarak
collection PubMed
description (1) Background: The vascular type of Ehlers–Danlos syndrome (vEDS) is a rare genetic connective tissue disorder caused by pathogenic variants in the COL3A1 gene that result in arterial and organ fragility and premature death. We present five cases of vEDS that highlight the diagnosis and treatment challenges encountered by clinicians with these patients. (2) Case presentations: we present the cases of five patients with vascular complications of vEDS who were successfully managed using endovascular interventions or hybrid techniques at our institution from 2005 to 2022. (3) Conclusions: These data emphasize that a multidisciplinary approach is needed for vEDS patients and that when endovascular or hybrid treatment is performed in a timely manner by a skilled team of interventional radiologists, good results can be achieved. Our report also demonstrates that the prognosis of vEDS patients has improved over the past 20 years with a new prevention program including celiprolol therapy, physical activity adaptation and limitation, and scheduled monitoring by expert clinicians.
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spelling pubmed-96580282022-11-15 Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV Alqahtani, Mubarak Claudinot, Amandine Gaudry, Marine Bartoli, Axel Barral, Pierre Antoine Vidal, Vincent Boyer, Louis Busa, Tiffany Cadour, Farah Jacquier, Alexis De Masi, Mariangela Bal, Laurence J Clin Med Case Report (1) Background: The vascular type of Ehlers–Danlos syndrome (vEDS) is a rare genetic connective tissue disorder caused by pathogenic variants in the COL3A1 gene that result in arterial and organ fragility and premature death. We present five cases of vEDS that highlight the diagnosis and treatment challenges encountered by clinicians with these patients. (2) Case presentations: we present the cases of five patients with vascular complications of vEDS who were successfully managed using endovascular interventions or hybrid techniques at our institution from 2005 to 2022. (3) Conclusions: These data emphasize that a multidisciplinary approach is needed for vEDS patients and that when endovascular or hybrid treatment is performed in a timely manner by a skilled team of interventional radiologists, good results can be achieved. Our report also demonstrates that the prognosis of vEDS patients has improved over the past 20 years with a new prevention program including celiprolol therapy, physical activity adaptation and limitation, and scheduled monitoring by expert clinicians. MDPI 2022-10-27 /pmc/articles/PMC9658028/ /pubmed/36362573 http://dx.doi.org/10.3390/jcm11216344 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Alqahtani, Mubarak
Claudinot, Amandine
Gaudry, Marine
Bartoli, Axel
Barral, Pierre Antoine
Vidal, Vincent
Boyer, Louis
Busa, Tiffany
Cadour, Farah
Jacquier, Alexis
De Masi, Mariangela
Bal, Laurence
Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV
title Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV
title_full Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV
title_fullStr Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV
title_full_unstemmed Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV
title_short Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV
title_sort endovascular management of vascular complications in ehlers–danlos syndrome type iv
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658028/
https://www.ncbi.nlm.nih.gov/pubmed/36362573
http://dx.doi.org/10.3390/jcm11216344
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