The vascular type of Ehlers–Danlos syndrome
EhlersDanlos syndrome (EDS) type IV (vascular type of EDS)is a rare inherited autosomal dominant connective-tissue disordercaused by a mutation in the procollagen III gene (the COL3A1gene). Patients with this syndrome are prone to rupture of arteriesand hollow body organs. Among all types of EDS, ty...
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| Format: | Article |
| Language: | English |
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Research Center of Neurology
2017-02-01
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| Series: | Анналы клинической и экспериментальной неврологии |
| Subjects: | |
| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/20/121 |
| _version_ | 1818204704398639104 |
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| author | Maria V. Gubanova Larisa A. Dobrynina Lyudmila A. Kalashnikova |
| author_facet | Maria V. Gubanova Larisa A. Dobrynina Lyudmila A. Kalashnikova |
| author_sort | Maria V. Gubanova |
| collection | DOAJ |
| description | EhlersDanlos syndrome (EDS) type IV (vascular type of EDS)is a rare inherited autosomal dominant connective-tissue disordercaused by a mutation in the procollagen III gene (the COL3A1gene). Patients with this syndrome are prone to rupture of arteriesand hollow body organs. Among all types of EDS, type IV involves~510% of cases. Vascular complications may develop in anyanatomical region; large and medium-sized arteries are affectedmost frequently. Typical complications include dissection of thevertebral and carotid arteries at the extra- and intracranial levels,carotid-cavernous fistulas, and aneurysms. The diagnosis is basedon major and minor clinical criteria and can be confirmed by laboratorytests: by detecting a quantitative and qualitative disruptionof type III collagen synthesis by fibroblast culture or identifyingthe mutation in the COL3A1 gene. Invasive diagnostic techniquesand surgical intervention should be used in case of life-threatening complications. Today, there is no specific technique for treatingEDS. Our findings demonstrate that vascular complications in patientswith EDS type IV were reduced by using -blocker celiprolol. Inhibitors of the reninangiotensin system and the agents loweringthe concentration of transforming growth factor-beta openup new prospects for conservative treatment of this pathology andimprove the future outlook. |
| first_indexed | 2024-12-12T03:45:28Z |
| format | Article |
| id | doaj.art-a6cd5228fb4043d2a86c960c8fe79559 |
| institution | Directory Open Access Journal |
| issn | 2075-5473 2409-2533 |
| language | English |
| last_indexed | 2024-12-12T03:45:28Z |
| publishDate | 2017-02-01 |
| publisher | Research Center of Neurology |
| record_format | Article |
| series | Анналы клинической и экспериментальной неврологии |
| spelling | doaj.art-a6cd5228fb4043d2a86c960c8fe795592022-12-22T00:39:35ZengResearch Center of NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-25332017-02-01104455110.17816/psaic2012The vascular type of Ehlers–Danlos syndromeMaria V. Gubanova0Larisa A. Dobrynina1https://orcid.org/0000-0001-9929-2725Lyudmila A. Kalashnikova2Research Center of NeurologyResearch Center of NeurologyResearch Center of NeurologyEhlersDanlos syndrome (EDS) type IV (vascular type of EDS)is a rare inherited autosomal dominant connective-tissue disordercaused by a mutation in the procollagen III gene (the COL3A1gene). Patients with this syndrome are prone to rupture of arteriesand hollow body organs. Among all types of EDS, type IV involves~510% of cases. Vascular complications may develop in anyanatomical region; large and medium-sized arteries are affectedmost frequently. Typical complications include dissection of thevertebral and carotid arteries at the extra- and intracranial levels,carotid-cavernous fistulas, and aneurysms. The diagnosis is basedon major and minor clinical criteria and can be confirmed by laboratorytests: by detecting a quantitative and qualitative disruptionof type III collagen synthesis by fibroblast culture or identifyingthe mutation in the COL3A1 gene. Invasive diagnostic techniquesand surgical intervention should be used in case of life-threatening complications. Today, there is no specific technique for treatingEDS. Our findings demonstrate that vascular complications in patientswith EDS type IV were reduced by using -blocker celiprolol. Inhibitors of the reninangiotensin system and the agents loweringthe concentration of transforming growth factor-beta openup new prospects for conservative treatment of this pathology andimprove the future outlook.https://annaly-nevrologii.com/journal/pathID/article/viewFile/20/121ehlers–danlos syndrome type ivvascular typecol3a1 genemutationdissectionaneurysm |
| spellingShingle | Maria V. Gubanova Larisa A. Dobrynina Lyudmila A. Kalashnikova The vascular type of Ehlers–Danlos syndrome Анналы клинической и экспериментальной неврологии ehlers–danlos syndrome type iv vascular type col3a1 gene mutation dissection aneurysm |
| title | The vascular type of Ehlers–Danlos syndrome |
| title_full | The vascular type of Ehlers–Danlos syndrome |
| title_fullStr | The vascular type of Ehlers–Danlos syndrome |
| title_full_unstemmed | The vascular type of Ehlers–Danlos syndrome |
| title_short | The vascular type of Ehlers–Danlos syndrome |
| title_sort | vascular type of ehlers danlos syndrome |
| topic | ehlers–danlos syndrome type iv vascular type col3a1 gene mutation dissection aneurysm |
| url | https://annaly-nevrologii.com/journal/pathID/article/viewFile/20/121 |
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