What is the management plan for vascular Ehlers-Danlos syndrome (vEDS)?

Management of Vascular Ehlers-Danlos Syndrome

Vascular EDS requires 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. 1

Diagnosis and Genetic Confirmation

• Genetic testing identifying a pathogenic COL3A1 variant is mandatory for diagnosis of vascular EDS—clinical suspicion alone is insufficient. 1
• Vascular EDS is an autosomal dominant disorder with prevalence of 1/50,000 to 1/200,000, causing life-threatening vascular complications starting in adolescence. 1
• Life expectancy is reduced to an average of 51 years, with recurrence rate of 1.6 vascular events per 5-year period. 1
• Null COL3A1 variants (producing no gene product) paradoxically show better outcomes than other variant types. 1

Medical Management

Blood Pressure Control

• Maintain blood pressure in the normal range with aggressive treatment of hypertension—this is the cornerstone of medical therapy. 1, 2
• Optimal BP control reduces risk of arterial rupture and dissection. 1

Celiprolol Therapy

• 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 three-fold reduction in arterial rupture. 1, 3
• Starting celiprolol after 10 years of age is considered reasonable by expert consensus, though no definitive age recommendation exists. 1
• Note that celiprolol lacks FDA approval in the United States but is recommended by European guidelines. 4

Surveillance and Imaging Strategy

Baseline and Annual Monitoring

• Perform baseline imaging from head to pelvis using Doppler ultrasound (DUS), low-radiation CT angiography (CTA), or cardiovascular magnetic resonance (CMR) to evaluate the entire aorta and branch vessels. 1, 4, 2
• Annual surveillance imaging is standard practice to monitor for new aneurysms, dissections, or arterial dilation. 1, 4, 2
• Frequency of follow-up should be adapted individually based on findings—stable patients may have extended intervals after demonstrating stability. 1, 2

Imaging Modality Selection

• Strongly prefer non-invasive imaging (DUS, CTA with low radiation protocols, or CMR) over invasive procedures. 1, 4, 2
• Diagnostic catheter angiography is contraindicated due to high risk of fatal vascular complications from arterial fragility. 4, 5, 6

Management of Acute Complications

Emergency Approach

• Any acute, unexplained pain requires urgent imaging to exclude arterial rupture—this is a medical emergency. 1
• Acute arterial complications usually require intensive care unit hospitalization with a conservative approach in most cases. 1
• Interventional vascular or intestinal procedures should be limited to situations of vital risk only. 1

Surgical Considerations

• Surgical intervention carries extremely high mortality risk due to tissue fragility and bleeding complications. 4, 5, 6
• When surgery is unavoidable, use meticulous tissue handling, pledgeted sutures for all anastomoses, and simple repair techniques to minimize further injury. 4, 5, 6
• Endovascular therapy with coil embolization may be attempted for ruptured pseudoaneurysms, visceral aneurysms, and carotid-cavernous fistulas as a less traumatic alternative. 3, 7
• There are no clear diameter thresholds for prophylactic intervention—decisions must be made case-by-case by experienced multidisciplinary teams. 1

Lifestyle Modifications and Preventive Measures

• Modify lifestyle to minimize injury and risk of vessel/organ rupture—avoid contact sports, high-intensity physical exercise, and heavy isometric training. 1, 8, 9
• Procedures requiring organ inflation (e.g., colonoscopy) should be avoided or performed with extreme caution. 1
• Create individualized emergency care plans ("vascular EDS passport") documenting diagnosis and management recommendations for use when traveling. 9

Pregnancy Considerations

• Pregnancy carries significant risk of fatal arterial and uterine rupture, though overall mortality may not differ from nulliparous vEDS women. 1
• Patients must engage in shared decision-making informed by vascular status and specific COL3A1 variant type. 1
• Most women with known vascular EDS undergo cesarean delivery due to rupture risk, and postpartum hemorrhage should be anticipated. 4, 5
• Vascular ruptures can occur during pregnancy itself, not just delivery. 5

Multidisciplinary Care Structure

• Management requires a multidisciplinary team including cardiology, vascular surgery, genetics, and other specialists with expertise in connective tissue disorders. 1, 4, 2
• Centralize care at centers of excellence with experience managing vascular EDS whenever feasible. 2, 3, 9
• Prognosis improves significantly when patients are properly managed by experienced teams. 1

Critical Pitfalls to Avoid

• Never perform invasive angiography—the risk of fatal complications from arterial injury is prohibitive. 4, 5, 6
• Avoid unnecessary surgical interventions—adopt a wait-and-see approach with close surveillance when possible, as surgery itself carries high mortality. 6, 9
• Do not delay imaging for acute pain—arterial rupture is time-sensitive and potentially fatal. 1
• Avoid opioids for chronic pain management, particularly in patients with gastrointestinal manifestations. 4, 2