What are the screening guidelines for Vascular Ehlers-Danlos (Vascular EDS) syndrome?

From the Guidelines

Vascular Ehlers-Danlos syndrome (vEDS) screening should include baseline MRI or CT from head to pelvis to evaluate the entire aorta and its branches, with annual surveillance imaging thereafter to monitor any dilated or dissected aortic or arterial segments, as recommended by the 2022 ACC/AHA guideline 1. The goal of screening is to identify arterial segments at risk and prevent spontaneous aortic and arterial dissections, aneurysms, and rupture. Key components of screening include:

• Genetic testing for mutations in the COL3A1 gene for individuals with a family history of vEDS or those showing clinical features such as thin, translucent skin, easy bruising, characteristic facial features, or a history of arterial, intestinal, or uterine ruptures.
• Regular cardiovascular screening, including echocardiograms and annual blood pressure checks to detect and manage hypertension.
• Arterial imaging with MRA or CTA to identify aneurysms or arterial dissections before they become life-threatening. Additionally, the 2024 ESC guidelines for the management of peripheral arterial and aortic diseases recommend regular vascular surveillance of the aorta and peripheral arteries by DUS, CCT, or CMR in patients with vEDS 1. However, the most recent and highest quality study, the 2022 ACC/AHA guideline, provides more comprehensive recommendations for screening and management of vEDS 1. It is essential to note that vEDS carries significant mortality risk from sudden arterial or organ rupture, and early detection of vascular complications can guide preventive measures such as beta-blocker therapy or prophylactic surgical interventions when necessary. Pregnant women with vEDS require more intensive monitoring, and family members of affected individuals should undergo genetic counseling and testing. The decision to intervene for aortic and branch vessel aneurysms and dissections involves a Multidisciplinary Aortic Team and shared decision-making, considering the increased risk of surgical repair due to vascular fragility and associated bleeding complications 1.

From the Research

Screening Guidelines for Vascular Ehlers-Danlos Syndrome

• The diagnosis of Vascular Ehlers-Danlos Syndrome (vEDS) is based on various clinical signs, noninvasive imaging, and the identification of a mutation of the COL3A1 gene 2.
• When two major diagnostic criteria are present, a genetic test should be proposed, performed, and its result presented in a multidisciplinary group 2.
• The identification of a mutation in the COL3A1 gene coding for type III procollagen can confirm the diagnosis of vEDS 3.
• A comprehensive genetic screening for vEDS can be performed through an amplification-based next-generation sequencing system, which can detect a wide spectrum of variants from various types of samples 4.

Clinical Features and Complications

• Vascular EDS causes severe fragility of connective tissues with arterial and gastrointestinal rupture, and complications of surgical and radiological interventions 3.
• Arterial lesions suggestive of the disease include dissecting aneurysms of the internal carotid and iliac arteries and of the anterior visceral branches of the abdominal aorta, fusiform aneurysms of the splenic artery, and early onset nontraumatic direct carotid-cavernous fistulae 2.
• Early-onset varicose veins, spontaneous peritonitis or unusually important perineal lesions after giving birth should also attract the physician's attention 2.
• The management of intracranial disease in vEDS requires an intricate understanding of the syndrome, and is still associated with significant complications that lead to morbidity and mortality 5.

Management and Treatment

• The management of vEDS is possible, but there is no cure as of present 6.
• Recently, discoveries with potential impact on the management of vEDS have been elucidated, including the use of beta-blockers and small interference RNAs (siRNA) to silence the pathogenic variant allele 6.
• The prognosis of Ehlers-Danlos syndrome, vascular type, is grim, but there is wide interindividual variability, and life expectancy is best among patients receiving regular follow-up 2.
• Management by an experienced multidisciplinary team, implementation of drastic prevention measures, and the possible prescription of beta-blockers should help to reduce the risk of complications and justify hope for a real improvement in prognosis in the near future 2.