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

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA