People with Marfan syndrome can be at increased risk of spontaneous pneumothorax.  While this condition is usually not life threatening, it should be considered an emergency.

What is spontaneous pneumothorax?
What are the symptoms of spontaneous pneumothorax?
How is spontaneous pneumothorax diagnosed?
How is spontaneous pneumothorax treated?
Is there a recommendation regarding chemical versus mechanical scarring for the treatment of spontaneous pneumothorax in people with Marfan syndrome?
 

What is spontaneous pneumothorax?
Spontaneous pneumothorax is a collection of air or gas in the space between the lungs and the chest that "collapses" the lung and prevents it from inflating completely.

What are the symptoms of spontaneous pneumothorax?
Symptoms of a pneumothorax include chest pain that usually has a sudden onset. The pain is sharp and may lead to feelings of tightness in the chest. Shortness of breath, rapid heart rate, rapid breathing, cough, and fatigue are other symptoms of pneumothorax. The skin may develop a bluish color (termed cyanosis) due to decreases in blood oxygen levels.

How is spontaneous pneumothorax diagnosed?
Examination of the chest with a stethoscope reveals decreased or absent breath sounds over the affected lung. The diagnosis is confirmed by chest x-ray.

How is spontaneous pneumothorax treated?
Small pneumothorax is treated in the hospital with supplemental oxygen. Moderate to large pneumothorax is treated by chest tube evacuation and possibly pleurodesis (mechanical or chemical pleural "scarring") if necessary.

Is there a recommendation regarding chemical versus mechanical scarring for the treatment of spontaneous pneumothorax in people with Marfan syndrome?
Physicians who care for people with Marfan syndrome should assume that all patients will eventually require aortic replacement. Therefore, any thoracic procedure should respect the anatomic mandates of future aortic surgery. If supplemental oxygen or chest tube insertion does not successfully treat the pneumothorax, doctors may recommend pleurodesis, which involves "scarring" the lung surface to attach the lung to the chest wall. The best pleurodesis method for individuals with Marfan syndrome is mechanical rather than chemical pleurodesis, as the former makes cardiac surgery easier.

As in any emergency, it is best to be prepared in advance.  Complete the NMF's Emergency Information Packet template, which helps you to gather important information such as medical history, medical and personal contact information, legal documentation, allergies, etc. and take the completed document with you to the hospital.