Cystic Lung Disease

Cystic lung disease is a name for many conditions that cause fluid- or air-filled pockets (cysts) in your lungs. The cysts can be the main sign of certain diseases. Other health conditions — like autoimmune disorders, cancer, infections or genetic diseases — can also cause them.

Some examples of cystic lung diseases include:

• Lymphangioleiomyomatosis (LAM), a genetic condition that causes smooth, muscle-like cells to grow in your lungs
• Pulmonary Langerhans cell histiocytosis, a rare disease that happens when special cells from your bone marrow (Langerhans cells) build up in your lungs and other parts of your body
• Lymphoid interstitial pneumonia and follicular bronchiolitis, conditions where immune cells build up in your lungs
• Birt-Hogg-Dubé syndrome, a genetic condition that causes noncancerous skin growths
• Bronchogenic cysts, cysts that form during fetal development
• Pulmonary sequestration, an area of nonfunctioning lung tissue you’re born with

Symptoms of cystic lung disease

Some people with cystic lung disease have no symptoms. But those who do have symptoms could experience:

• Shortness of breath
• Cough
• Wheezing
• Chest pain
• Frequent lung infections

Depending on the cause, you may have additional symptoms.

Cystic lung disease causes

There are many causes of cystic lung diseases, including:

• Changes to your DNA — either ones that you’re born with or that happen later in life
• Congenital lung conditions (ones you’re born with), like bronchogenic cysts and pulmonary sequestration
• Cancers that start in or spread to your lungs
• Lung infections
• Interstitial lung diseases
• Smoking
• Autoimmune disorders
• Amyloidosis and other diseases that cause abnormal proteins to build up in parts of your body

Complications of cystic lung disease

A collapsed lung is the most common complication of cystic lung diseases. You may also get fluid around your lungs.

How doctors diagnose cystic lung disease

Healthcare providers can see cystic lung disease on imaging, like chest X-rays and high-resolution CT scans (HRCT). During pregnancy, your provider might see cysts on a prenatal ultrasound. Your provider might also recommend:

• Lung function tests to understand how well your lungs are working
• Blood tests to look for specific proteins, see how well your organs are working and check for other clues that help diagnose a specific cause
• A lung biopsy to look at tissue samples under a microscope
• Genetic testing to diagnose conditions that cause changes in your DNA

How are cystic lung diseases treated?

Treatment for cystic lung disease depends on the type you have. Some treatments could include:

• Inhaled bronchodilators
• Pulmonary rehabilitation
• Oxygen therapy
• Surgery
• Lung transplant (in cases of severe or progressive disease)

There are also medications that treat specific diseases. If you’ve had a collapsed lung, your provider may recommend pleurodesis. This is a procedure that attaches your lung to your chest cavity to prevent lung collapse from happening again.

When should I see my healthcare provider?

Talk to your healthcare provider if you or your child has symptoms like a chronic cough or shortness of breath. These symptoms can have many causes, but it’s always important to get them checked out, especially if they’re getting worse over time.

If you have a cystic lung disease diagnosis, be sure to attend follow-up appointments. Let your provider know how you’re managing any kind of treatment you’re on and if you have new or worsening symptoms.

It might be helpful to ask your provider:

• Does this need to be treated?
• What are my treatment options?
• How will I feel after treatment?
• Will this get worse over time?
• What symptoms should I look out for?
• When should I follow up with you?

Is cystic lung disease serious?

Some cystic lung diseases, like LAM, can be serious because of the damage they do to your lungs. Some need to be watched closely because they can cause problems outside of your lungs that appear later in life. Others may not cause serious symptoms or can get better with treatment. Talk to your provider about what to expect in your specific situation.