Management of Ehlers-Danlos Syndrome

Diagnosis and Classification

The European Heart Journal recommends genetic testing for definitive diagnosis of vascular EDS, particularly for identification of a causal COL3A1 variant 3, 4
Diagnosis should include thorough evaluation of multiple systems, including cardiovascular, gastrointestinal, and musculoskeletal, as recommended by the European Heart Journal and Clinical Gastroenterology and Hepatology 1, 3

The European Heart Journal recommends regular vascular surveillance of the aorta and peripheral arteries by Doppler ultrasound, CT, or MRI 2, 3
Baseline imaging from head to pelvis is recommended to evaluate the entire aorta and branches, with annual surveillance thereafter for dilated or dissected segments, as suggested by Circulation 5
Celiprolol should be considered for vEDS patients to reduce vascular morbidity, according to the European Heart Journal 2, 3
Optimal blood pressure control is essential, as recommended by the European Heart Journal 3, 4

The Clinical Gastroenterology and Hepatology recommends managing prominent symptoms and abnormal GI function test results, including treatment for nausea/vomiting, abdominal pain, constipation, and diarrhea 1
Opioids should be avoided for abdominal pain management, as recommended by the Clinical Gastroenterology and Hepatology and Clinical Nutrition 1, 7
For POTS symptoms, lifestyle modifications and pharmacological options such as blood volume expanders and heart rate lowering agents may be used, as suggested by the Clinical Gastroenterology and Hepatology 1

Parenteral nutrition should be avoided in patients with hEDS except in life-threatening malnutrition, as recommended by the Clinical Nutrition 7
Brain-gut behavioral therapies are recommended, as studies have demonstrated increased rates of anxiety and psychological distress in patients with hypermobility, according to the Clinical Gastroenterology and Hepatology 1
Patients with EDS should be evaluated in centers with experience in caring for this patient group, as recommended by the European Heart Journal 8

Regular follow-up with a multidisciplinary team is essential for all EDS subtypes, as recommended by the European Heart Journal 8, 3
For vEDS patients with stable findings, imaging intervals can be extended after demonstrating stability, as suggested by the European Heart Journal and Circulation 3, 5

Invasive procedures should be avoided when possible in vEDS patients, as recommended by Circulation 5
Opioid use should be avoided for chronic pain management, especially in patients with gastrointestinal manifestations, according to the Clinical Gastroenterology and Hepatology and Clinical Nutrition 1, 7
Parenteral nutrition should be avoided in hEDS patients without true intestinal failure, as recommended by the Clinical Nutrition 7