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

Management of Hypermobile Ehlers-Danlos Syndrome (hEDS)

The management of hypermobile Ehlers-Danlos Syndrome requires a multisystemic, symptom-focused approach that addresses the most prominent symptoms while treating any comorbid conditions like POTS and MCAS. 1

Core Management Principles

• Management should focus on treating the most prominent symptoms and abnormal GI function test results, following general treatment principles for disorders of gut-brain interaction (DGBI) and GI motility disorders 1
• Integrated or multidisciplinary care is essential to address the multisystemic nature of hEDS 1
• Opioids should be avoided or discontinued in patients with pain-predominant features 1
• Psychological support with brain-gut behavioral therapies should be incorporated, as patients with hypermobility often have increased rates of anxiety and psychological distress 1

Gastrointestinal Symptom Management

For Nausea/Vomiting:

• Antiemetics (ondansetron, promethazine, prochlorperazine, aprepitant) 1
• Prokinetics (metoclopramide, domperidone, erythromycin, prucalopride) 1

For Abdominal Pain:

• Acid-suppressive drugs (proton pump inhibitors, H2 receptor antagonists) 1
• Antispasmodics (hyoscyamine, dicyclomine, peppermint oil) 1
• Neuromodulators (tricyclic antidepressants, SSRIs, SNRIs, pregabalin, gabapentin) 1

For Constipation:

• Osmotic or stimulant laxatives 1
• Chloride channel activator (lubiprostone) 1
• Guanylate cyclase-C agonists (linaclotide, plecanatide) 1
• 5-HT4 receptor agonist (prucalopride) 1
• Sodium hydrogen exchanger (tenapanor) 1

For Diarrhea:

• Antidiarrheals (loperamide) 1
• Bile acid sequestrants (cholestyramine, colestipol, colesevelam) 1
• Mixed opioid receptor agonist/antagonist (eluxadoline) 1
• 5-HT3 receptor antagonists (alosetron, ondansetron) 1

Management of Associated Conditions

For POTS (Postural Orthostatic Tachycardia Syndrome):

• Lifestyle modifications:
  • Increased fluid and salt intake 1
  • Exercise training 1
  • Compression garments 1
• Pharmacological treatments (for patients who don't respond to conservative measures):
  • Volume expansion agents (fludrocortisone, desmopressin, erythropoietin) 1
  • Heart rate lowering agents (propranolol, ivabradine) 1
  • Central nervous system sympatholytics (clonidine, methyldopa) 1
  • Other agents (midodrine, pyridostigmine, droxidopa, modafinil) 1

For MCAS (Mast Cell Activation Syndrome):

• Histamine receptor antagonists 1
• Mast cell stabilizers 1
• Avoidance of triggers:
  • Certain foods, alcohol, strong smells 1
  • Temperature changes, mechanical stimuli (friction) 1
  • Emotional distress 1
  • Specific medications (opioids, NSAIDs, iodinated contrast) 1

Nutritional and Dietary Management

• Special diets to consider:

  • Gastroparesis diet (small particle diet) for upper GI symptoms 1
  • Low FODMAP diet for IBS-like symptoms 1
  • Gluten-free or dairy-free diets 1
  • Low-histamine diet for suspected MCAS 1

• All dietary interventions should include appropriate nutritional counseling to avoid restrictive eating patterns 1

Physical Therapy and Rehabilitation

• Physical and occupational therapy are beneficial for managing joint hypermobility and preventing injury 2
• Exercise programs should focus on joint stabilization and muscle strengthening 2

Diagnostic Considerations

• Testing for celiac disease should be considered early in patients with various GI symptoms, not just those with diarrhea 1
• Diagnostic testing for functional defecation disorders should be performed in patients with lower GI symptoms like incomplete evacuation 1
• In patients with upper GI symptoms and comorbid POTS, testing of gastric motor functions should be considered 1

Pitfalls and Caveats

• Avoid diagnosing hEDS without properly excluding other conditions - genetic testing may identify alternative diagnoses in up to 26.4% of patients initially thought to have hEDS 3
• Don't rely solely on joint hypermobility for diagnosis, as hypermobility can be present across a spectrum of disorders 3
• Recognize that hEDS and Hypermobility Spectrum Disorders (HSD) may represent a clinical continuum rather than distinct entities 4
• Be aware that no specific medical or genetic therapies are currently available for any type of EDS 5
• Avoid opioids for pain management as they can worsen symptoms and lead to dependence 1