How are erosive gastropathy and osteoporosis managed in patients with Ehlers-Danlos syndrome or Marfan syndrome?

Management of Erosive Gastropathy and Osteoporosis in Ehlers-Danlos Syndrome and Marfan Syndrome

The management of erosive gastropathy and osteoporosis in patients with Ehlers-Danlos syndrome (EDS) or Marfan syndrome requires a targeted approach focusing on gastrointestinal symptom control, bone health preservation, and consideration of the underlying connective tissue disorder. 1, 2

Gastrointestinal Management in EDS and Marfan Syndrome

Erosive Gastropathy Management

• Medical management should focus on treating the most prominent GI symptoms and abnormal GI function test results in patients with hypermobile EDS (hEDS) 1

• For patients with erosive gastropathy and upper GI symptoms:

  • Proton pump inhibitors are the most commonly used medications (38% of EDS patients) for management of gastritis, reflux esophagitis, and erosive disease 3
  • H2 receptor antagonists such as famotidine can be used as alternative or adjunctive therapy, particularly in patients with comorbid mast cell activation syndrome (MCAS) 4
  • Timely diagnostic testing of gastric motor functions should be considered after exclusion of structural diseases, as abnormal gastric emptying is more common in this population 1

• For patients with gastroparesis symptoms:

  • Small, frequent meals and a gastroparesis diet (small particle diet) should be implemented 1, 2
  • Prokinetic agents such as metoclopramide may be considered for patients with delayed gastric emptying 4
  • Antiemetics such as ondansetron can be used for associated nausea and vomiting 4

• For patients with comorbid POTS (common in hEDS):

  • Increasing fluid and salt intake, exercise training, and compression garments should be implemented 1, 4
  • Pharmacological treatments for volume expansion, heart rate control, and vasoconstriction should be considered in patients who don't respond to conservative measures 1, 2

Special Dietary Considerations

• Various elimination diets (low FODMAP, gluten-free, dairy-free, low-histamine) can be considered for improving GI symptoms 1, 4
• Dietary interventions should be delivered with appropriate nutritional counseling to avoid restrictive eating pitfalls 1
• Parenteral nutrition should be avoided except in cases of life-threatening malnutrition 5

Osteoporosis Management in EDS and Marfan Syndrome

• Regular bone density monitoring is recommended for patients with EDS and Marfan syndrome, particularly those with risk factors for osteoporosis 2, 5
• Calcium and vitamin D supplementation should be considered as first-line preventive therapy 2
• For patients with confirmed osteoporosis:
  • Bisphosphonates should be used with caution due to concerns about delayed tissue healing in connective tissue disorders 2
  • Denosumab may be considered as an alternative to bisphosphonates in patients with contraindications or intolerance 2
  • Physical therapy with appropriate low-impact weight-bearing exercises should be incorporated into treatment plans 2

Multidisciplinary Approach

• A multidisciplinary team involving gastroenterology, rheumatology, endocrinology, and genetics is essential for comprehensive management 2, 5
• Brain-gut behavioral therapies are recommended due to increased rates of anxiety and psychological distress in patients with hypermobility 2, 5
• Regular follow-up with the multidisciplinary team is recommended for all EDS subtypes 2, 5

Important Considerations for Different EDS Subtypes

Hypermobile EDS (hEDS)

• GI symptoms are highly prevalent (62.3%) in hEDS patients 6
• Among patients tested for dysmotility, 76.2% were found to have some form of GI dysmotility 6
• POTS is an independent predictive factor for GI dysmotility in hEDS patients 6
• Common GI symptoms include abdominal pain (56.1%), nausea (42.3%), constipation (38.6%), and heartburn (37.6%) 3

Vascular EDS (vEDS)

• Invasive diagnostic procedures should be avoided due to risk of vascular complications 2, 7
• Non-invasive imaging techniques should be preferred for evaluation of GI symptoms 2, 7
• Conservative management approaches are generally recommended for GI complications 7

Marfan Syndrome Considerations

• GI symptoms are less common and less severe in Marfan syndrome compared to hEDS, but still more prevalent than in the general population 8
• Management should focus on symptom control similar to hEDS patients, but with special attention to potential aortic complications 1, 8
• Regular cardiovascular monitoring is essential alongside GI management 1

Common Pitfalls to Avoid

• Opioids should be avoided for chronic pain management, especially in patients with gastrointestinal manifestations 2, 5
• Invasive diagnostic procedures should be minimized, particularly in vascular EDS patients 2, 7
• Excessive dietary restrictions without proper nutritional guidance can lead to malnutrition 1, 4
• Failure to recognize the multisystemic nature of these conditions can lead to inadequate management 4, 9

By following these guidelines, clinicians can effectively manage erosive gastropathy and osteoporosis in patients with EDS and Marfan syndrome while minimizing complications and improving quality of life.