Naslov
Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene

Autori
Huljev Frković, Sanda ; Slišković, Ana Marija ; Toivonen, Mia ; Crkvenac Gregorek, Andrea ; Šutalo, Ana ; Vrkić Kirhmajer, Majda

Izvornik
Croatian medical journal (0353-9504) 63 (2022); 394-398

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Vascular Ehlers-Danlos Syndrome, celiprolol, COL3A1 gene

Sažetak
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.

Izvorni jezik
Engleski

POVEZANOST RADA