Lung problems in MFS are not common and not a major feature of the condition. However there are a couple of issues that can arise. The first has been raised in part in the section on scoliosis and breastbone. Changes in the shape of the chest wall can lead to difficulties with breathing.

Sometimes the actual tissues in the lungs do not function correctly because of dilation of the connective tissue walls (e.g. emphysema and bronchiectasis), or underdevelopment (hypoplasia) or constriction (fibrosis).

Perhaps the most well known of the complications is the sudden collapse of a lobe of a lung or even of the whole of one lung. The individual suddenly becomes short of breath, maybe even blue around the lips, and has pain on that side of the chest. This is called a pneumothorax – air gets trapped in the chest between the inside lining of the chest wall and the outside lining of the lung. This is an emergency needing immediate medical attention to remove the trapped air.

(Review date August 2019)

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