Ehlers-Danlos Syndrome and Bronchiectasis
Pathophysiology and Clinical Features
- The collagen defect in Ehlers-Danlos Syndrome (EDS) leads to weakened bronchial walls that are susceptible to permanent dilation (bronchiectasis) due to reduced structural integrity of the airways 1, 2
- Neutrophilic inflammation contributes to the destruction of bronchial walls through the action of neutrophil elastase and collagenase, further degrading the already defective collagen 2
- The bronchiectasis in EDS is often cystic in nature and may have a central distribution pattern 3
Diagnosis and Associated Conditions
- High-resolution CT (HRCT) is essential for diagnosing bronchiectasis in EDS, showing abnormal dilation of bronchi 2, 5
- Marfan syndrome (affects fibrillin-1) can cause bronchiectasis in approximately 28% of patients 4
- Cutis laxa (defective elastin) may also present with bronchiectasis 1
- Rheumatoid arthritis, which can affect collagen metabolism, is associated with bronchiectasis in 2-5% of cases 6