Incidence of Pneumothorax in Marfan Syndrome

Research by Saba Mahmoud, medical student, St George’s University of London 
 
What is the correct incidence of pneumothorax (free air in the chest cavity that causes the lungs to collapse) in Marfan syndrome?  Lung complications occur in up to 10% of patients. This includes bronchiectasis, fibrosis, emphysema and tuberculosis. Pneumothorax is the most common. The incidence of pneumothorax in the general English population is 24/100,000 in men, and 9.9/100,000 in women. In contrast, the incidence in Marfan syndrome patients has been quoted as between 4.4 – 11%. 
 
This project aimed to provide a more accurate risk figure. A search was carried out on the radiology database of St George’s Hospital over a ten-year period (2008 – 2018) by cross - referencing Marfan syndrome and pneumothorax. Two patients were identified. The estimated total number of Marfan syndrome patients in the St George’s catchment area of 6.5 million, is 390 patients. This gives an incidence of 0.5%. 
 
A plea was sent out in the Marfan Trust newsletter, with a circulation of 1,875 supporters, of whom five responded. This gave a minimum incidence of 0.4%. These incidences are much lower than those quoted in the literature, but when compared to the incidence in the general population, the risk is still much greater in Marfan syndrome patients. The typical affected patient is a young male. 
 
Conclusion
Patients should be advised against deep sea diving, sudden changes of altitude pressure and contact sports. The actual risk is still low, but patients should be aware, and know that a visit to the nearest emergency department with x-ray confirmation should lead to rapid effective management.
Incidence of Pneumothorax in Marfan Syndrome
← Back to News