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

Treatment Guidelines for Ehlers-Danlos Syndrome

Management of Ehlers-Danlos syndrome requires a multidisciplinary approach tailored to the specific subtype, with vascular EDS requiring more aggressive monitoring and intervention than hypermobile EDS. 1

Vascular EDS (Type IV) Management

Cardiovascular Monitoring and Treatment

• Regular vascular surveillance of the aorta and peripheral arteries using non-invasive imaging (Doppler ultrasound, CT, or MRI) is recommended 1
• Baseline imaging from head to pelvis should be performed to evaluate the entire aorta and branches, with annual surveillance for dilated or dissected segments 2, 1
• Celiprolol (a beta-blocker with vasodilatory properties) should be considered to reduce vascular morbidity, though it lacks FDA approval in the US 2
• Alternative beta-blockers with vasodilatory properties may be prescribed when celiprolol is unavailable 2
• Noninvasive vascular imaging is strongly preferred as fatal complications have been associated with invasive imaging in vascular EDS patients 2

Surgical Considerations

• Surgical repair in vascular EDS carries increased risk due to tissue fragility and bleeding complications 2
• If arterial rupture is life-threatening, surgical repair can be performed with careful tissue handling and pledgeted sutures for anastomoses 2
• The role of prophylactic repair of unruptured aneurysms remains unclear, unlike in Loeys-Dietz syndrome where prophylactic repair is established 2
• Invasive procedures should be avoided whenever possible 1

Pregnancy Management

• Pregnancy in vascular EDS carries significant risks due to potential uterine rupture and vessel rupture during delivery 2
• Most women with known vascular EDS undergo cesarean delivery, though complications can occur with either vaginal or cesarean deliveries 2
• Shared decision-making is essential regarding pregnancy, with potentially lower risk for women with specific genetic variants and normal vascular imaging 2

Hypermobile EDS Management

Gastrointestinal Symptoms

• Treatment should focus on managing prominent GI symptoms and abnormal GI function test results 2
• For patients with comorbid POTS and chronic upper GI symptoms, diagnostic testing of gastric motor functions should be considered 2
• Special diets including gastroparesis diet (small particle diet) and various elimination diets can be considered with appropriate nutritional counseling 2
• Opioids should be avoided for abdominal pain management 1

POTS and MCAS Management

• POTS treatment may include increasing fluid and salt intake, exercise training, and compression garments 2
• Pharmacological treatments for volume expansion, heart rate control, and vasoconstriction should be considered for patients who don't respond to conservative measures 2
• For suspected MCAS, histamine receptor antagonists and/or mast cell stabilizers can be beneficial 2
• Avoiding triggers such as certain foods, alcohol, strong smells, and specific medications is recommended for MCAS management 2

Pain Management

• Pain in EDS can be classified as articular limb (acute/subacute and chronic), muscular limb, neuropathic limb, back/neck, abdominal/pelvic, and headache 3
• Occupational therapy and bracing have shown 70% effectiveness in symptom improvement 4
• Neuropathic modulators should be used cautiously as they have poor tolerability with 47% of patients reporting adverse effects 4
• Physical therapy is a cornerstone of treatment for musculoskeletal manifestations 3, 5

General Management Principles

• A multidisciplinary approach involving specialists in cardiology, gastroenterology, physical medicine, and genetics is essential 1
• Regular follow-up with a multidisciplinary team is recommended for all EDS subtypes 1
• Genetic testing is recommended for definitive diagnosis, particularly for identification of causal variants in vascular EDS (COL3A1) 1
• Patient education about the condition and lifestyle modifications are important components of management 6
• Brain-gut behavioral therapies are recommended due to increased rates of anxiety and psychological distress in patients with hypermobility 1

Common Pitfalls to Avoid

• Invasive diagnostic procedures in vascular EDS patients 2, 1
• Opioid use for chronic pain management, especially in patients with gastrointestinal manifestations 1
• Parenteral nutrition in hypermobile EDS patients without true intestinal failure 1
• Failure to recognize the multisystemic nature of EDS, leading to fragmented care 5, 7
• Diagnostic catheter angiography in patients with collagen vascular diseases carries increased risks; non-invasive imaging should be used whenever possible 2