Are Children with Ehlers-Danlos Syndrome at Increased Risk of Pneumothorax?
Yes, children with Ehlers-Danlos syndrome (EDS), particularly those with vascular EDS (type IV), are at significantly increased risk of spontaneous pneumothorax and should be evaluated for this diagnosis when presenting with unexplained pneumothorax. 1, 2, 3
Risk Stratification by EDS Subtype
The pneumothorax risk varies dramatically depending on the specific EDS subtype:
Vascular EDS (Type IV) - Highest Risk
- Pneumothorax is a major pulmonary complication in vascular EDS, often occurring alongside hemothorax and hemoptysis 2, 3
- Spontaneous pneumothorax frequently precedes the diagnosis of vascular EDS by several years, making it a critical diagnostic clue in young patients 2
- The defective type III collagen in arterial and pleural tissue leads to spontaneous rupture even without obvious structural abnormalities 4
- Hemopneumothorax (combined blood and air) is particularly characteristic of vascular EDS 5, 6
Hypermobile and Classical EDS - Lower but Present Risk
- These more common subtypes (accounting for 80-90% of all EDS cases) have lower pneumothorax risk compared to vascular EDS 4
- When pneumothorax occurs, it typically presents as uncomplicated spontaneous pneumothorax rather than hemopneumothorax 7
Clinical Recognition and Diagnostic Approach
When to Suspect EDS in a Child with Pneumothorax
Approximately 10% of pneumothorax cases have a family history, and familial causes including EDS should be actively sought 1. Specific red flags include:
- Recurrent spontaneous pneumothorax in a young patient without smoking history 7, 5
- History of joint hypermobility (Beighton score ≥6/9 in prepubertal children) 4
- Skin hyperextensibility, easy bruising, or tissue fragility 8, 4
- Family history of unexplained vascular events, organ rupture, or early sudden death 1
- CT findings of emphysema, clusters of calcified nodules, or cavitated nodules in a young patient 2
Mandatory Workup When EDS is Suspected
If familial pneumothorax is suspected, CT imaging should always be part of the standard workup, and consultation with specialists in connective tissue disorders or specialist pneumothorax clinics should be considered 1. Specifically:
- Genetic testing is essential - 26.4% of clinically diagnosed EDS cases actually have alternative genetic conditions requiring different management 8, 9
- Echocardiogram to evaluate for aortic root dilation (present in 25-33% of hypermobile and classical EDS) 4
- Dilated eye exam to exclude Marfan syndrome 4
- For vascular EDS specifically: baseline vascular imaging from head to pelvis to identify pre-existing aneurysms or dissections 9
Critical Management Considerations
Treatment Approach
- Standard pneumothorax management (observation for small pneumothorax <2cm, aspiration, or chest tube drainage) can be used 1
- However, all procedures must be performed with extreme caution by experienced operators fully informed of the EDS diagnosis 2
- Invasive vascular procedures and monitoring are absolutely contraindicated in vascular EDS due to risk of fatal complications 8, 9
Surgical Considerations if Required
- Tissue fragility requires meticulous surgical technique with careful tissue handling 9
- Wounds heal slowly - retaining sutures should not be removed for a longer period than usual 8
- Antibiotic prophylaxis should be extended until suture removal 8
- Use pledgeted sutures for anastomoses when performing thoracic procedures 9
Common Pitfalls to Avoid
- Never dismiss recurrent pneumothorax in a young patient as "primary spontaneous" without excluding connective tissue disorders 5
- Do not assume clinical diagnosis is accurate - genetic testing is mandatory as clinical overlap exists between EDS subtypes and other conditions 8, 9
- Never perform invasive diagnostic angiography in patients with suspected or confirmed vascular collagen disorders 8
- Do not overlook CT parenchymal abnormalities (emphysema, calcified nodules) that may suggest underlying vascular EDS 2