PNEUMOTHORAX AND GENES
The lungs are filled with air, but the chest cavity is not. There is a negative
pressure in the chest which keeps the lungs from collapsing. If air gets into the
chest cavities the lungs will collapse. The most common situation in which a lung
collapses is what we call spontaneous pneumothorax (SP). A pneumothorax may
happen because of trauma, but most SP’s do not have an immediate cause.
Further examination usually reveals small or large bubbles on the surface of the
lungs that have ruptured and allowed air to enter the chest cavity. In a number of
cases there is a genetic link to the pneumothorax and there are several well-
known, but rare, conditions which are associated with spontaneous
pneumothorax.
10-12% of the patients with SP have a family history of this occurrence.
Studies have shown some particular genetic predisposition in these families which
apparently make them more susceptible to a pneumothorax. The more exotic
conditions (most of which you have never heard of) include Marfan Syndrome,
Alpha 1 Antitrypsin Deficiency, Ehlers-Danlos Syndrome, Homocystinuria and
Cystic Fibrosis, just to name a few.
The symptoms associated with a spontaneous pneumothorax include a
sudden onset of chest pain and shortness of breath. The diagnosis is made on
chest x-ray and the treatment is the placement of a tube in the affected side of
the chest that is attached to some type of suction devise to remove the air. Once
the air leak on the lung has sealed over, the tube is removed.
