What is the recommended management approach for hypermobile Ehlers-Danlos Syndrome (hEDS)?

Management of Hypermobile Ehlers-Danlos Syndrome (hEDS)

The cornerstone of hEDS management is low-resistance exercise combined with physical therapy for myofascial release to improve joint stability through increased muscle tone, while strictly avoiding opioids for chronic pain management. 1

Core Physical Management

Exercise and Physical Therapy

• Initiate low-resistance exercise programs as the primary intervention to increase muscle tone and improve joint stability 1
• Physical therapy with myofascial release techniques is essential to facilitate participation in exercise programs 1
• Delay orthopedic surgery in favor of physical therapy and bracing, as surgical outcomes show decreased stabilization and pain reduction compared to patients without hEDS 1
• Therapeutic exercise and motor function training have the strongest evidence for efficacy in this population 2

Cardiovascular Monitoring

• Obtain baseline echocardiogram to evaluate for aortic root dilatation 1
• If aortic root size is normal, repeat echocardiography every 2-3 years until adult height is reached 1
• More frequent monitoring is required if aortic root dilation is detected, based on diameter and rate of increase 1

Pain Management Algorithm

First-Line Pharmacologic Approach

• Start with gabapentin, titrating to 2400 mg daily in divided doses for neuropathic pain components 1
• Consider tricyclic antidepressants (particularly amitriptyline) starting at low doses and gradually titrating to 75-100 mg if tolerated 1
• Pregabalin serves as an alternative to gabapentin, dosed at 75-300 mg every 12 hours 1
• SNRIs can be considered as neuromodulators for pain management 1

Abdominal Pain Management

• Use antispasmodics such as hyoscyamine, dicyclomine, or peppermint oil for abdominal pain 1
• Strictly avoid opioids for abdominal or chronic pain 3, 1
• For patients already on opioids, implement a careful multidisciplinary approach with facilitation of opioid cessation 3

Medications to Avoid

• Never prescribe NSAIDs as they worsen gastrointestinal symptoms and are generally contraindicated 1
• Acetaminophen (paracetamol) is safe and can be used for pain management 1

Non-Pharmacologic Pain Interventions

• Implement Cognitive Behavioral Therapy (CBT) for chronic pain management to promote adaptive behaviors 1
• Recommend yoga specifically for chronic neck/back pain, headache, and musculoskeletal pain 1
• A pain management specialist is crucial for patients with chronic pain 1

Gastrointestinal Management

Diagnostic Approach

• Consider celiac disease testing earlier in the diagnostic evaluation for patients with various GI symptoms, not just diarrhea, as risk is elevated in hEDS 3
• Follow a positive symptom-based diagnostic strategy with limited noninvasive testing, similar to the general population 3
• Perform anorectal manometry, balloon expulsion test, or defecography for patients with incomplete evacuation given high prevalence of pelvic floor dysfunction 3
• In patients with coexisting POTS and upper GI symptoms, consider earlier gastric emptying or accommodation testing after excluding structural disease 3
• Age- and indication-appropriate endoscopy is safe (perforation risk is not increased in hEDS, unlike vascular EDS) 3

GI Symptom Treatment

• For gastritis and reflux: use proton pump inhibitors, H-2 blockers, or sucralfate 1
• For delayed gastric emptying: use promotility agents 1
• For irritable bowel symptoms: use antispasmodics, antidiarrheals, and laxatives as needed 1

Dietary Interventions

• Consider gastroparesis diet (small particle diet) for upper GI symptoms 3
• Various elimination diets (low fermentable carbohydrates, gluten-free, dairy-free, low-histamine) can be tried 3
• Ensure all dietary interventions include appropriate nutritional counseling to avoid restrictive eating patterns 3
• Routine testing for disaccharidase deficiencies is not supported by current evidence 3

Management of Associated Conditions

POTS (Postural Orthostatic Tachycardia Syndrome)

• First-line treatment: increase fluid and salt intake, exercise training, and compression garments 3, 1
• Assess for exaggerated orthostatic tachycardia using postural vital signs 3
• Consider referral for autonomic function testing including tilt table or sudomotor testing 3
• For non-responders to conservative measures, consider pharmacological treatments for volume expansion, heart rate control, and vasoconstriction with integrated multidisciplinary care 3, 1

MCAS (Mast Cell Activation Syndrome)

• Diagnostic testing requires serum tryptase levels at baseline and 1-4 hours following symptom flares, with increases of 20% above baseline plus 2 ng/mL necessary for diagnosis 3
• MCAS testing should only be considered for patients with episodic symptoms involving 2 or more physiological systems (cutaneous, GI, cardiac, respiratory, neuropsychiatric) 3
• Do not routinely test for MCAS in patients with isolated GI symptoms without evidence of generalized mast cell disorder 3
• Treatment includes histamine receptor antagonists and/or mast cell stabilizers when MCAS is confirmed 3, 1
• Advise avoidance of triggers: certain foods, alcohol, strong smells, temperature changes, mechanical stimuli, emotional distress, and specific medications (opioids, NSAIDs, iodinated contrast) 3, 1
• Refer to allergy specialist or mast cell disease research center for additional testing if diagnosis is supported 3

Nutritional and Bone Health

Supplementation

• Vitamin C supplementation may improve hypermobility as it is a cofactor for collagen fibril cross-linking 1
• Encourage calcium and vitamin D supplementation for bone health 1
• Recommend low-impact weight-bearing exercise 1
• Consider DXA scan for height loss greater than one inch 1

Multidisciplinary Care Coordination

The management requires coordination among multiple specialists 1, 4, 5:

• Medical geneticists for diagnosis and classification
• Rheumatologists for joint hypermobility evaluation using Beighton scale
• Gastroenterologists for GI manifestations
• Cardiologists for aortic root evaluation
• Neurologists for POTS evaluation
• Pain management specialists for chronic pain
• Physical and occupational therapists for core therapeutic interventions

Critical Pitfalls to Avoid

• Never prescribe opioids for chronic pain management in hEDS patients 3, 1
• Do not rush to orthopedic surgery; exhaust conservative management first 1
• Avoid NSAIDs due to GI contraindications 1
• Do not perform routine MCAS testing without appropriate clinical features 3
• Ensure dietary restrictions include nutritional counseling to prevent malnutrition 3
• Do not assume all GI symptoms are functional; test for celiac disease appropriately 3