Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene
| Autor: | Huljev Frković, Sanda, Slišković, Ana Marija, Toivonen, Mia, Crkvenac Gregorek, Andrea, Šutalo, Ana, Vrkić Kirhmajer, Majda |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Croatian Medical Journal. 63:394-398 |
| ISSN: | 1332-8166 0353-9504 |
| DOI: | 10.3325/cmj.2022.63.394 |
| Popis: | Due to life-threatening complications, vascular Ehlers- Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining ap- propriate treatment. Despite some distinguishing features, this rare disease often goes unrecognized. Apart from sur- gical or endovascular treatment of serious vascular com- plications, medical treatment based on celiprolol helps re- duce arterial complications. We report on a case of vEDS in a young man who suffered several episodes of severe vascular complications. The diagnosis of vEDS was estab- lished based on clinical manifestations and confirmed by genetic testing. A novel heterozygous pathogenic variant in the COL3A1 gene was found. To our knowledge, this is the first case of vEDS caused by this variant. |
| Databáze: | OpenAIRE |
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