How does Ehlers-Danlos syndrome (EDS) affect the lungs?

Pulmonary Manifestations of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) affects the lungs primarily through tissue fragility and connective tissue abnormalities, leading to pneumothorax, hemothorax, and respiratory muscle dysfunction, with vascular EDS subtype carrying the highest risk of life-threatening pulmonary complications.

Pulmonary Complications by EDS Subtype

Vascular EDS (vEDS)

• Pneumothorax and hemothorax: Most serious and common pulmonary manifestations

  • Often occur as early manifestations, frequently preceding arterial or intestinal complications by an average of 7 years 1
  • May be the first presenting symptom that leads to vEDS diagnosis
  • Recurrent episodes are common due to underlying tissue fragility

• Clinical significance:

  • Spontaneous pneumothorax/hemothorax occurs in approximately 17.7% of vEDS patients 1
  • 81% of these pulmonary complications precede the formal diagnosis of vEDS 1
  • Should trigger consideration of vEDS in young patients with spontaneous pneumothorax

Hypermobile EDS (hEDS) and Other Subtypes

• Respiratory muscle dysfunction:

  • Reduced respiratory muscle function due to connective tissue abnormalities 2
  • Responds to inspiratory muscle training

• Airway and breathing issues:

  • Dyspnea (particularly exertional)
  • Dysphonia
  • Asthma-like symptoms
  • Sleep apnea

Classical EDS

• Pulmonary cysts and nodules:
  • Parenchymal cysts
  • Fibrous and fibroosseous nodules 3
  • Likely related to abnormal repair of parenchymal or vascular tears

Diagnostic Considerations

Imaging

• High-resolution CT (HRCT) is essential for evaluating lung parenchyma in suspected EDS pulmonary involvement 4
  • Thin-section images are crucial for proper assessment
  • May reveal:
    • Parenchymal cysts
    • Pneumothorax
    • Hemothorax
    • Fibrotic changes
    • Nodular lesions

Clinical Evaluation

• Respiratory symptoms to monitor:

  • Dyspnea (especially with exertion)
  • Chest pain (may indicate pneumothorax or hemothorax)
  • Cough
  • Voice changes

• Pulmonary function testing:

  • Often shows restrictive pattern rather than obstructive 2
  • Reduced respiratory muscle function

Management Approaches

Acute Complications

• Pneumothorax/hemothorax management:
  • Standard thoracostomy tube placement with extreme caution due to tissue fragility
  • Pleurodesis should be considered for recurrent episodes 2
  • Avoid invasive procedures when possible due to high risk of complications 5

Chronic Management

• Respiratory support:

  • Continuous positive pressure support for sleep apnea 2
  • Vocal cord strengthening exercises for dysphonia
  • Inspiratory muscle training for respiratory muscle weakness

• Preventive measures:

  • Avoid activities that increase intrathoracic pressure
  • Regular pulmonary follow-up, particularly for vEDS patients

Special Considerations

Surgical Risks

• Tissue fragility complicates surgical interventions:
  • Increased risk of hemorrhage
  • Poor wound healing
  • Consider non-invasive approaches whenever possible 5

Pregnancy

• Increased risk of pulmonary complications during pregnancy
• Complete vascular imaging essential before pregnancy in women with vEDS 5
• Multidisciplinary approach involving pulmonology and high-risk obstetrics

Clinical Pearls

• A spontaneous pneumothorax in a young patient should trigger consideration of vEDS in the differential diagnosis 1
• Pulmonary complications often precede the diagnosis of vEDS by several years
• Conservative non-surgical management strategies are preferred when possible
• Regular pulmonary follow-up is essential for EDS patients, particularly those with vascular subtype

Monitoring Recommendations

• Regular pulmonary function testing
• Low threshold for chest imaging with any new respiratory symptoms
• Comprehensive vascular assessment for patients with pulmonary manifestations of EDS
• Genetic testing for COL3A1 mutations in patients with spontaneous pneumothorax and clinical features suggestive of vEDS