Keywords:
Interventional vascular, Management, Arteries / Aorta, Percutaneous, Catheter arteriography, Arterial access, Complications, Embolisation, Aneurysms, Connective tissue disorders, Outcomes
Authors:
C. A. Capodaglio1, I. Fiorina2, L. P. Moramarco1, N. Cionfoli1, E. Arbustini1, M. Grasso1, P. Quaretti2; 1Pavia/IT, 2Pavia, IT/IT
DOI:
10.26044/ecr2019/C-3243
Aims and objectives
We describe our experience in endovascular percutaneous treatment in patients with Ehlers-Danlos syndrome (EDS) type IV,
reporting the outcomes and procedure-related complications,
focusing on the management of the vascular access site by means of closure device use.
EDS type IV (also known as vascular type or vEDS) is an autosomal dominant inherited condition due to the mutation in the COL3A1 gene,
which encodes for type III collagen chains.
Considering all of the different forms of EDS (according to the revised Classification) [1],
the vascular type represents one of the rarest but also one of the most severe in prognosis and natural history.
Because of the pathogenic variations of collagen arrangement,
patients are at risk of developing complications in multiple vascular districts,
with aneurysms and pseudoaneurysms being the most common findings (Figures 1,2).
Most patients (about 80%) are likely to have at least one vascular complication by the age of 40 [2].
Spontaneous development of Carotid-Cavernous Fistulae has also been described [3] (Fig.
3).
Other characteristic clinical findings include skin and facial features (in some cases),
easy bruising from an early age and predisposition towards the development of varicose veins,
hypermobility of small ligaments and tendency to muscle rupture.
Women of childbearing age may present increased risk of pregnancy related complications [4].
Clinical diagnosis of EDS type IV is difficult even for experienced clinicians; genetic testing should thus be considered in the event of the aforementioned findings and high index of clinical suspicion [1].
General management in these patients advises limitation of high impact physical activities that might lead to trauma or increase the likelihood of vascular damage/rupturing.
Therapy is mostly conservative and focuses on the administration of hypotensive drugs [5].
Findings of vascular lesions are common though frequently asymptomatic.
Although no standardized guidelines for the management of vEDS syndrome patients exist,
current clinical practice tends to delay interventional and surgical therapy once cardiovascular events have already occurred.
For known uncomplicated lesions,
current practice consists of monitoring by means of non-invasive diagnostic techniques such as CT or MRI.
Once intervention is considered necessary,
an endovascular approach is generally preferred as an option for these patients,
as it is associated with a minor mortality and complication rate given the inherent weakness of the vessel structure.
Elective endovascular intervention procedures have been described as safe and with a low complication rate,
although how to obtain vascular access and how to manage hemostasis remain concerns,
because of the known occurrence of puncture site complications [6].
Literature/reports on closure device implementation in vEDS patients is scarce,
and open repair of the access is generally recommended [7].