Biomarkers in Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos syndrome is a rare inherited disease which confers exceptional organ fragility in seamingly healthy young adults. The disease is caused by a mutation in the COL3A1 gene encoding type III collagen, critical to ensure physical resistance to mechanical stress of hollow organs. The disease results in increased tissular fragility, responsible of spontaneous arterial ruptures and dissections and spontaneous bowel perforations. The life-expectancy of patients with vascular Ehlers-Danlos syndrome is reduced by these recurring accidents. The exact mechanisms that trigger arterial accidents are unknown. Recent findings suggest a possible deleterious effect of inflammation and a possible dysregulation of the TGF-beta pathway. Thus, the purpose of this study is to identify further alterations in vascular endothelial and smooth muscular cell signalling/secretion, and to confirm previously suggested mechanisms of arterial accidents in vEDS patients.

Inclusion criteria

• Patients with vascular Ehlers-Danlos syndrome must have been positively tested for a pathogenic mutation within the COL3A1 gene.
• In patients with arterial dissection(s) any associated systemic arterial disease must have been ruled out, especially vascular Ehers-Danlos syndrome

Exclusion criteria

-All subjects must not present any chronic systemic disease, any acute disease within seven days prior to enrollment, diabetes mellitus and arterial hypertension.