Ehlers-Danlos Syndrome Management

Introduction to Ehlers-Danlos Syndrome

The American College of Gastroenterology recommends a multidisciplinary team approach for the management of Ehlers-Danlos Syndrome (EDS), including cardiologists, vascular surgeons, gastroenterologists, geneticists, and physical medicine and rehabilitation specialists, with an emphasis on annual vascular surveillance for the vascular type and symptomatic treatment for the hypermobile type 1, 2, 3

The International Society for Autonomic Neuroscience recommends rigorous diagnostic criteria for hypermobile EDS, including a Beighton score ≥5/9 for joint hypermobility, soft skin without fragility, and mandatory exclusion of alternative diagnoses through genetic testing 4
The European Society of Cardiology notes that 26.4% of clinically diagnosed cases have alternative genetic conditions requiring different management, making genetic testing essential 4

The American Heart Association recommends celiprolol as the first-line treatment for vascular EDS, with a demonstrated reduction in arterial rupture in retrospective studies and an open randomized trial 2, 3
The American College of Cardiology suggests aggressive control of blood pressure to reduce the risk of rupture and arterial dissection 2, 3
The Society for Vascular Surgery recommends baseline imaging, including ultrasound Doppler, low-radiation angiography, or cardiovascular magnetic resonance from head to pelvis to evaluate the entire aorta and branching vessels 2, 3

The North American Society for Pediatric Gastroenterology recommends a symptom-based diagnostic strategy for gastrointestinal symptoms in hypermobile EDS, with limited non-invasive testing but special considerations 1, 5
The American Gastroenterological Association suggests considering celiac disease testing in patients with hypermobile EDS who report a variety of gastrointestinal symptoms, not limited to those with diarrhea, due to the increased risk 6, 5
The International Foundation for Functional Gastrointestinal Disorders recommends evaluating gastric motor function in patients with postural orthostatic tachycardia syndrome (POTS) and chronic upper gastrointestinal symptoms, considering tests such as gastric emptying and accommodation after excluding anatomical and structural diseases 1, 5

The American College of Gastroenterology recommends antiemetics, prokinetics, and neuromodulators for the treatment of nausea, vomiting, and abdominal pain in hypermobile EDS 1
The European Society of Gastrointestinal Motility recommends laxatives, activators of the chloride channel, and agonists of the guanylate cyclase-C receptor for the treatment of constipation 1
The International Society for Autonomic Neuroscience suggests antidiarrheal agents, bile acid sequestrants, and mixed opioid receptor agonists/antagonists for the treatment of diarrhea 1

The American Psychological Association recommends cognitive-behavioral therapies for the management of anxiety and stress vulnerability in patients with hypermobile EDS 1, 5, 3
The World Confederation for Physical Therapy suggests low-resistance exercise and physical therapy for musculoskeletal management 4

The Society for Vascular Surgery recommends meticulous surgical technique, careful tissue handling, and suturing with pledgets for anastomoses in vascular procedures for vascular EDS 3
The American College of Surgeons suggests that endoscopic procedures do not appear to have increased complication rates in adults with hypermobile EDS, except in individuals with vascular EDS 6

The American Heart Association recommends echocardiography every 2-3 years until adult height is reached and repeating if cardiovascular symptoms develop or significant increases in physical activity are planned 4
The European Society of Cardiology suggests that for aortic root dilatation, echocardiography should be performed every 6 months if the diameter is >4.5 cm in adults or the growth rate is >0.5 cm/year 4