What is the relationship between Ehlers-Danlos syndrome and the development of aneurysms?

From the Guidelines

Patients with Ehlers-Danlos syndrome should undergo regular imaging surveillance, including baseline MRI or CT from head to pelvis, and annual surveillance imaging thereafter to monitor any dilated or dissected aortic or arterial segments, as recommended by the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease 1. The management of aneurysms in Ehlers-Danlos syndrome is complex and requires a multidisciplinary approach.

• Vascular Ehlers-Danlos syndrome is attributable to pathogenic variants in COL3A1 and leads to spontaneous aortic and arterial dissections, aneurysms, and rupture at young ages 1.
• Medical therapy includes education, lifestyle modification, and avoidance of invasive procedures when possible, with some studies suggesting a benefit of celiprolol, a beta blocker with vasodilatory properties, in patients with vascular Ehlers-Danlos syndrome 1.
• Surgical repair carries an increased risk due to vascular fragility and associated bleeding complications, and the decision to intervene for aortic and branch vessel aneurysms and dissections involves a Multidisciplinary Aortic Team and shared decision-making 1.
• The frequency of screening surveillance is uncertain, but typical protocols 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 and imaging every 2 years when the initial imaging is normal 1.
• Notably, the aorta and arterial branches in vascular Ehlers-Danlos syndrome may rupture (or dissect) even without significant dilation, highlighting the importance of regular surveillance and prompt medical attention for symptoms like sudden severe pain 1.

From the Research

Ehlers-Danlos Syndrome and Aneurysm

• Ehlers-Danlos syndrome (EDS) type IV is associated with a high incidence of vascular lesions, including multiple aneurysm formation, spontaneous rupture, and dissection 2.
• The extreme fragility of arteries in EDS patients makes surgical management hazardous and often unrewarding 2.
• Vascular complications, including aneurysm formation and spontaneous arterial perforations, are difficult to manage surgically and result in significant operative mortality due to blood vessel fragility 3.

Management of Aneurysms in EDS Patients

• Endovascular surgery offers advantages over open surgery in EDS patients, including reduced risk of complications and mortality 3, 4.
• Endovascular repair of abdominal aortic aneurysms is a preferred treatment option for EDS patients 3.
• Surgical treatment carries a high mortality rate, whereas the mortality rate associated with endovascular treatment is unknown 5.
• Simple procedures are preferred for vascular repair, as more complex techniques can result in further injury and hemorrhage 5.

Diagnosis and Treatment

• Diagnosis of vascular EDS should be considered in patients under the age of 45 years who present with arterial tearing or dissection, colonic perforation, or visceral rupture 5.
• CT, echography, and MRI are the most useful imaging modalities for diagnosing vascular complications in EDS patients 5.
• Arteriography is contraindicated in EDS patients due to the risk of complications 5.
• Management of EDS patients requires a multidisciplinary approach, including vascular surgery, medical therapy, and genetic testing to confirm the diagnosis 6.