Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder caused by pathogenic variants in COL3A1, a gene encoding type III collagen. Consequent tissue fragility manifests in a specific clinical phenotype, as well as possible life-threatening complications such as spontaneous arterial dissection or rupture, bowel perforation, and uterine rupture. Initial presentation typically occurs in early adulthood, whereas median life expectancy is estimated at 51 years (1). While diagnosis may be guided by clinical criteria, molecular confirmation is required (2).
Case report: A 52-year-old man with arterial hypertension and bilateral renal cysts was incidentally diagnosed with a left external iliac artery dissection during a routine computed tomography (CT) scan (Figure 1). He reported no inguinal pain and showed no signs of limb ischemia. Further assessment revealed a family history of vascular events: his father died at 55 from a ruptured aortic aneurysm, and his paternal grandfather experienced sudden death at 50. Physical examination showed subtle features suggestive of vEDS, including micrognathia, keloids, varicose veins, and flat feet with piezogenic papules. A subsequent CT scan revealed bilateral saccular aneurysms at the renal artery bifurcations (Figure 2), in addition to the previously identified iliac artery dissection. Next-generation sequencing identified a heterozygous COL3A1 missense mutation, p.Gly237Arg. This variant was classified as pathogenic, confirming a diagnosis of vEDS. The patient was started on celiprolol and irbesartan, as these medications have been shown to reduce the incidence of major arterial events in patients with vEDS (3). Lifestyle modifications were advised, and cascade genetic testing was recommended for relatives.
Conclusion: Although most vEDS patients develop major arterial complications by the age of 40, disease onset is variable and may present later, as observed in our patient. Despite appropriate management, these patients remain at high risk of morbidity and mortality. This case emphasizes the importance of considering vEDS in asymptomatic adults with incidental vascular findings, subtle connective tissue signs, and a relevant family history, in order to enhance clinical awareness and diagnostic accuracy.