What are the complications and management strategies for Ehlers-Danlos syndrome (EDS)?

Complications and Management Strategies for Ehlers-Danlos Syndrome (EDS)

The management of Ehlers-Danlos Syndrome requires a multidisciplinary approach focusing on regular vascular surveillance, medication therapy with celiprolol for vascular EDS, and targeted interventions for specific complications to reduce morbidity and mortality. 1, 2

Types and Complications of EDS

Vascular EDS (Type IV)

• Vascular EDS is the most severe form with life-threatening complications including arterial dissections, aneurysms, arterial ruptures, and arteriovenous fistulas 3
• Medium-sized arteries are commonly affected, with aortic dissection occurring in up to 10% of patients 3
• Life expectancy is reduced to an average of 51 years 3
• Complications may begin during adolescence and occur at unpredictable intervals 3
• Pregnancy carries significant risks of arterial and uterine complications, including potential rupture 3, 1

Hypermobile EDS

• Characterized by joint hypermobility leading to chronic dislocations, pain, and long-term disability 1, 4
• Gastrointestinal manifestations include abnormal GI function, nausea/vomiting, abdominal pain, constipation, and diarrhea 1, 2
• Postural orthostatic tachycardia syndrome (POTS) is a common comorbidity 1

Diagnostic Approach

• Genetic testing is essential for definitive diagnosis, particularly identification of causal COL3A1 variants in vascular EDS 3, 1
• Thorough evaluation of multiple systems is necessary, including cardiovascular, gastrointestinal, and musculoskeletal 2
• Baseline imaging from head to pelvis should be performed to evaluate the entire aorta and branches 1, 2

Management Strategies

Vascular Surveillance and Monitoring

• Regular vascular surveillance using non-invasive imaging (Doppler ultrasound, CT, or MRI) is recommended 3, 1
• Annual surveillance is recommended for dilated or dissected segments 1, 2
• Imaging intervals can be extended after demonstrating stability 2
• Invasive vascular procedures should be avoided due to risk of fatal complications 1, 2

Medical Management

• Celiprolol, a beta-blocker with vasodilatory properties, is recommended to reduce vascular morbidity in vascular EDS patients 3, 1, 5
• Optimal blood pressure control is essential, with aggressive hypertension treatment 3, 2
• For POTS symptoms, treatment may include increasing fluid and salt intake, exercise training, compression garments, and pharmacological options 1, 2

Surgical Considerations

• Surgical repair in vascular EDS carries increased risk due to tissue fragility and bleeding complications 1, 6
• Procedures should be performed with careful tissue handling and pledgeted sutures for anastomoses 1
• Acute arterial complications usually require hospitalization and a conservative approach in most cases 3
• Interventional vascular or intestinal procedures should be limited to vital risk situations 3
• There are no clear recommendations regarding aortic/arterial diameters at which to intervene; decisions must be made case-by-case 3

Pregnancy Management

• Pregnancy in vascular EDS carries significant risks due to potential uterine rupture and vessel rupture 3, 1
• Most women with known vascular EDS undergo cesarean delivery 1
• Patients need to be engaged in a shared-decision process, informed by vascular status and underlying variant type 3

Pain and Gastrointestinal Management

• Brain-gut behavioral therapies are recommended due to increased rates of anxiety and psychological distress 1, 2
• Special diets, including gastroparesis diet and various elimination diets, can be considered with appropriate nutritional counseling 1
• Opioids should be avoided for chronic pain management, especially in patients with gastrointestinal manifestations 1, 2

Common Pitfalls to Avoid

• Invasive diagnostic procedures in vascular EDS patients should be avoided due to risk of fatal complications 1, 6
• Diagnostic catheter angiography carries increased risks; non-invasive imaging should be used whenever possible 1
• Opioid use for chronic pain management should be avoided 1, 2
• Parenteral nutrition should be avoided in hypermobile EDS patients except in life-threatening malnutrition 2
• Procedures requiring organ inflation should be avoided or performed with extreme caution 3