What is the recommended management plan for a 38-year-old female with hypermobile Ehlers-Danlos Syndrome (hEDS) and multiple injuries?

Management Plan for a 38-Year-Old Female with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Multiple Injuries

A multidisciplinary, symptom-focused approach is essential for managing hEDS, with treatment targeting the most prominent symptoms while addressing potential comorbidities like POTS and MCAS. 1

Core Management Principles

• Integrated multidisciplinary care is necessary due to the multisystemic nature of hEDS, focusing on symptom management and prevention of joint injuries 1, 2
• Avoid opioids for pain management, as they can worsen symptoms and may trigger mast cell activation in susceptible individuals 1
• Implement psychological support and brain-gut behavioral therapies to address the increased rates of anxiety and psychological distress often seen in hEDS patients 1, 3

Musculoskeletal Management

• Physical therapy with specialized protocols for joint protection, proprioceptive training, and gradual strengthening exercises to stabilize hypermobile joints 4, 2
• Occupational therapy to assist with activities of daily living and provide adaptive equipment as needed 2
• Consider bracing or taping for unstable joints to prevent recurrent injuries and dislocations 5

Gastrointestinal Symptom Management

• Evaluate for common GI comorbidities, as up to 98% of hEDS patients meet criteria for disorders of gut-brain interaction (DGBI) 1
• For nausea/vomiting: Consider antiemetics (ondansetron, promethazine) and prokinetics (metoclopramide, prucalopride) 1
• For abdominal pain: Use acid-suppressive drugs, antispasmodics (hyoscyamine, dicyclomine, peppermint oil), or neuromodulators (TCAs, SSRIs, SNRIs, pregabalin, gabapentin) 1
• For constipation: Trial osmotic or stimulant laxatives, lubiprostone, guanylate cyclase-C agonists, prucalopride, or tenapanor 1
• For diarrhea: Consider loperamide, bile acid sequestrants, eluxadoline, or 5-HT3 receptor antagonists 1

Assessment for Comorbid Conditions

Postural Orthostatic Tachycardia Syndrome (POTS)

• Screen for orthostatic intolerance symptoms (dizziness, lightheadedness, tachycardia upon standing) 1
• If suspected, assess postural vital signs and consider referral for autonomic testing 1
• Treatment includes:
  • Increasing fluid and salt intake 1
  • Exercise training with gradual progression 1
  • Compression garments for lower extremities 1
  • Pharmacological options for refractory cases: fludrocortisone, propranolol, ivabradine, midodrine 1

Mast Cell Activation Syndrome (MCAS)

• Consider testing if patient presents with episodic symptoms affecting multiple systems (skin flushing, pruritus, GI symptoms, tachycardia) 1
• Diagnostic testing includes serum tryptase levels at baseline and 1-4 hours after symptom flares 1
• If MCAS is confirmed, treatment options include:
  • H1 antihistamines (cetirizine, fexofenadine) 1
  • H2 receptor antagonists (famotidine) 1
  • Mast cell stabilizers (cromolyn sodium) 1
  • Avoidance of triggers (certain foods, alcohol, strong smells, temperature changes) 1

Nutritional Management

• Consider specialized diets based on symptoms:
  • Small particle diet for gastroparesis symptoms 1
  • Low FODMAP diet for IBS-type symptoms 1
  • Low-histamine diet if MCAS is suspected 1
• Ensure nutritional counseling to prevent restrictive eating patterns and nutritional deficiencies 1

Monitoring and Follow-up

• Regular reassessment of symptoms and treatment efficacy 2, 3
• Coordination between specialists through a designated medical home, typically primary care 3
• Genetic testing may be considered to rule out other EDS subtypes or related connective tissue disorders 6, 5

Important Caveats

• Avoid aggressive physical therapy approaches that may cause injury; therapy should be gentle and progressive 4, 2
• Be aware that standard diagnostic criteria for hEDS were updated in 2017, replacing previous terms like Joint Hypermobility Syndrome 2, 6
• Recognize that hEDS affects multiple body systems beyond joints, requiring a holistic approach 4, 5
• Consider earlier testing for celiac disease, as it may present atypically in hEDS patients 1