Management of Vascular Ehlers-Danlos Syndrome

Introduction to Vascular EDS

The European Society of Cardiology recommends a multidisciplinary management strategy centered on celiprolol therapy, aggressive blood pressure control, annual vascular surveillance imaging, and conservative management of acute complications to reduce the high mortality risk from arterial rupture and dissection in patients with vascular EDS 1.

Genetic testing identifying a pathogenic COL3A1 variant is mandatory for diagnosis of vascular EDS, with a prevalence of 1/50,000 to 1/200,000, according to the European Heart Journal 1, 2.
The European Heart Journal reports that life expectancy is reduced to an average of 51 years, with a recurrence rate of 1.6 vascular events per 5-year period in patients with vascular EDS 1, 2.
Null COL3A1 variants show better outcomes than other variant types, as stated in the European Heart Journal 1, 2.

The European Society of Cardiology recommends maintaining blood pressure in the normal range with aggressive treatment of hypertension to reduce the risk of arterial rupture and dissection in patients with vascular EDS 1, 2, 3.
Celiprolol, a beta-blocker with vasodilatory properties, should be initiated to reduce vascular morbidity, based on two retrospective studies and one randomized open-label trial showing a three-fold reduction in arterial rupture, as reported in the European Heart Journal 1, 2.

The European Society of Cardiology recommends performing baseline imaging from head to pelvis using Doppler ultrasound, low-radiation CT angiography, or cardiovascular magnetic resonance to evaluate the entire aorta and branch vessels in patients with vascular EDS 1, 2, 3, 4.
Annual surveillance imaging is standard practice to monitor for new aneurysms, dissections, or arterial dilation, according to the European Heart Journal 1, 2, 3, 4.

Any acute, unexplained pain requires urgent imaging to exclude arterial rupture, which is a medical emergency, as stated in the European Heart Journal 1, 2.
Acute arterial complications usually require intensive care unit hospitalization with a conservative approach in most cases, according to the European Heart Journal 1, 2.

Pregnancy carries significant risk of fatal arterial and uterine rupture in patients with vascular EDS, though overall mortality may not differ from nulliparous vEDS women, as reported in the European Heart Journal 1, 2.

Management requires a multidisciplinary team including cardiology, vascular surgery, genetics, and other specialists with expertise in connective tissue disorders, according to the European Heart Journal 1, 2, 3, 4.
Centralize care at centers of excellence with experience managing vascular EDS whenever feasible, as recommended by the European Society of Cardiology 3.

Never perform invasive angiography due to the high risk of fatal complications from arterial injury, as stated in the European Heart Journal 4, 5.
Avoid unnecessary surgical interventions and adopt a wait-and-see approach with close surveillance when possible, as surgery itself carries high mortality, according to the European Society of Cardiology 1, 2.
Do not delay imaging for acute pain, as arterial rupture is time-sensitive and potentially fatal, as reported in the European Heart Journal 1, 2.