Dr Child's Casebook: A Leaking Lifeline

Among the many manifestations of Marfan syndrome is pneumothorax, a collapsed lung. It is precipitated by a leakage of air between the lung and inside chest wall, the ribcage. Whilst this leak can result from injury it is also often spontaneous in nature, especially so among tall, thin men and those with Marfan syndrome. Conscious of this, a worried member of the public called our Helpline, in the wake of her partner’s recurrent pneumothorax.

Q: I watched a documentary today about genetic syndromes and I realised that my partner may have Marfan Syndrome. Beside all the physical characteristics he was hospitalised when younger with spontaneous pneumothorax with doctors not being able to understand the reasons. He had also lately several episodes of spontaneous pneumothorax. I would be grateful if you could help us to have a possible diagnosis of Marfan syndrome.

A: Pneumothorax affects Marfan syndrome people in between 1-14 per cent of cases. It can also occur as an inherited trait on its own, sometimes with mitral valve prolapse - a slightly floppy heart valve. Increased risk of spontaneous pneumothorax has been observed in patients with Marfan syndrome and has been attributed, in part, to the presence of apical blebs and bullae.

A pulmonary apical bleb is a small collection of air between the lung and the outer surface of the lung (visceral pleura) which is usually found in the upper lobe of the lung. When a bleb ruptures, the air escapes into the chest cavity causing a pneumothorax (air between the lung and chest cavity) which can squash the lung, partially or fully collapsing it. 

If blebs become larger or come together to form a larger cyst, they are called bulla. Unless a pneumothorax occurs, or the bulla becomes very large, there are usually no symptoms. Patients with blebs will typically have emphysema.

The operation to prevent recurrence of pneumothorax is usually offered after three episodes.

However, pneumothorax does not definitively signify Marfan syndrome. Please ask your family doctor to refer your partner to the regional genetics clinic, for an appointment to rule out Marfan syndrome. He needs an echocardiogram to look at the heart and aorta, and this is a harmless ultrasound test which takes about 15 minutes. If there is a long delay in genetic appointment, ask your doctor to refer your partner directly to a local cardiologist for an echocardiogram. He may also need an eye check (ophthalmologist) to look in a detailed way, for eye signs of Marfan syndrome.

Please download our pamphlet “Marfan Trust Guide to Marfan syndrome” to take to your GP in case he does not know the features of Marfan. Please let us know how you get on.


Dr Child's Casebook: A Leaking Lifeline
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