One manifestation of Birt-Hogg-Dubé syndrome is lung cysts that can lead to a collapsed lung, also known as a pneumothorax. It is important to be aware of the symptoms of a pneumothorax, as this can help in the correct diagnosis and treatment. Some precautions have been shown in BHD syndrome patients to reduce the risk of a pneumothorax.
A lung cyst (also known as a bleb) is a sac on the surface of the lung that is filled with air. If it ruptures, air collects in the chest area which causes the lung to collapse.
Cysts that are caused by Birt-Hogg-Dubé syndrome may rupture unexpectedly. Some activities, such as scuba diving, flying, or visiting places of high altitude, may trigger the rupture. This type of collapsed lung is called a spontaneous pneumothorax, as it occurs in the absence of a traumatic injury.
You may not be aware that you have BHD-associated lung cysts, unless you have had a CT scan or other test. Even if you have cysts, you may never experience a collapsed lung and therefore may never need treatment for your lung symptoms.
To determine if you have a pneumothorax, it is likely that you will have a chest x-ray. You may also have a CT scan, which produces a more detailed image of the lungs and can help determine if an underlying disease caused the pneumothorax. Some institutions use ultrasound as well. Your doctor may also check your lungs with a stethoscope.
Additionally, you may have an arterial blood gas analysis to measure the amount of oxygen in your blood. For this test, a needle is inserted into an artery to collect a blood sample. This test may cause a little tingling or cramping just at the site, but it is usually a feeling that passes very quickly. This test is sometimes used to evaluate respiratory problems.