What is the management plan for patients with Ehlers-Danlos Syndrome (EDS)?

Management of Ehlers-Danlos Syndrome (EDS)

The management of Ehlers-Danlos Syndrome requires a multidisciplinary approach focused on treating specific symptoms and preventing complications, with interventions tailored to the EDS subtype and individual manifestations. 1

Diagnostic Considerations

• Diagnosis requires comprehensive clinical evaluation focusing on:

  • Joint hypermobility assessment using the Beighton scale (score ≥5 indicates hypermobility)
  • Skin examination for hyperextensibility, fragility, poor wound healing, and atrophic scarring
  • Family history and targeted genetic testing based on suspected subtype 1

• Hypermobile EDS (hEDS) is the most common subtype (80-90% of cases) and has no specific genetic test available yet 1

Cardiovascular Management

• Regular cardiovascular follow-up is essential, particularly for vascular EDS (vEDS)
• Echocardiogram is recommended to evaluate for aortic root dilatation (occurs in 25-33% of classic and hypermobile EDS) and valve abnormalities 1
• Baseline CT or MRI from head to pelvis should be performed to evaluate the entire aorta and branches in vEDS patients, with annual surveillance imaging thereafter 1
• Beta blockers, particularly celiprolol, are beneficial for vEDS patients, showing a three-fold decrease in arterial rupture 1, 2
• Indications for vascular intervention include rapid arterial aneurysm growth or dissection 1

Gastrointestinal Management

• For GI symptoms in hEDS, treatment should focus on:

  • Managing the most prominent GI symptoms and abnormal GI function test results
  • Appropriate exclusion of anatomical and structural diseases 3
  • Considering earlier testing for celiac disease and functional defecation disorders 1

• Dietary interventions that may help:

  • Gastroparesis diet (small particle diet)
  • Various elimination diets (low fermentable carbohydrates, gluten/dairy-free, low-histamine)
  • These should be delivered with appropriate nutritional counseling to avoid restrictive eating 3

• Low-dose neuromodulators (e.g., mirtazapine) may help with pain and improve food tolerance 1

• Optimize oral nutrition and avoid unnecessary parenteral nutrition due to risks of central line infections in hEDS patients 1

Pain Management

• Neuromodulators such as gabapentin and pregabalin are recommended for pain management 1
• Antispasmodics like hyoscyamine and dicyclomine may help manage muscle tension 1
• Avoid opioids for chronic pain management due to high risk of addiction and limited efficacy 1

Management of Associated Conditions

POTS (Postural Orthostatic Tachycardia Syndrome)

• Increase fluid and salt intake
• Exercise training
• Use of compression garments
• For non-responders, consider pharmacological treatments for volume expansion, heart rate control, and vasoconstriction with integrated care from multiple specialties 3

MCAS (Mast Cell Activation Syndrome)

• Treatment with histamine receptor antagonists and/or mast cell stabilizers
• Avoid triggers such as certain foods, alcohol, strong smells, temperature changes, mechanical stimuli, emotional distress, or specific medications 3

Surgical Considerations

• Surgery should be considered when:

  • Conservative measures fail to control symptoms
  • Progressive neurological deficits occur
  • Severe instability threatens spinal cord integrity
  • Quality of life is significantly impacted 1

• Elective surgical repair of blood vessels at risk of rupture may be safely undertaken at tertiary referral centers with expertise in managing connective tissue disorders 2

• Novel approaches using endovascular therapy with coil embolization have shown good results for treating ruptured pseudoaneurysms, visceral aneurysms, and carotid-cavernous fistulas 2

Special Considerations

Pregnancy

• Complete vascular imaging is essential before pregnancy in women with vEDS
• Comprehensive CT imaging is crucial before any necessary surgical intervention
• Most women with known vEDS undergo cesarean delivery 1

Anesthesia

• Special considerations are needed for anesthesia in EDS patients due to tissue fragility and potential complications
• EDS patients may require modified anesthetic approaches due to joint hypermobility and tissue fragility 4

Practical Recommendations

1. Identify and create a care team with specialists familiar with EDS
2. Provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan
3. Centralize management at centers of excellence when feasible
4. Maintain blood pressure in the normal range and treat hypertension aggressively
5. Conduct surveillance of vascular tree by Doppler ultrasound, CTA, or MRA on an annual basis 5

Common Pitfalls to Avoid

• Delayed diagnosis due to lack of provider knowledge about EDS 6
• Inappropriate use of opioids for chronic pain management 1
• Unnecessary parenteral nutrition in hEDS patients 1
• Failure to monitor for vascular complications, particularly in vEDS 5
• Lack of coordination between specialists managing different aspects of the condition 2

EDS patients benefit most from management by multidisciplinary teams at tertiary centers with expertise in connective tissue disorders, with regular monitoring for potential complications based on their specific EDS subtype.