What Is Cystic Lung Disease?

Cystic lung disease (CLD) is a group of lung disorders in which your lungs develop multiple cysts (thin-walled sacs filled with air or fluid). CLD can make it difficult or painful to breathe. Treatment varies according to what's causing it and how severe it is. Here's a look at cystic lung disease, including symptoms, causes, and treatment.

Types of Cystic Lung Disease

Cystic lung disease can mimic other lung conditions that cause breathing difficulties, like emphysema. The hallmark of CLD is the cysts, which are diagnosed more often now due to sophisticated medical technology like computed tomography (CT) scans.

CLD is relatively rare in people under 55 but increases in older individuals. People with cystic lung disease have underlying conditions that lead to CLD, including the following.

Lymphangioleiomyomatosis (LAM)

Lymphangioleiomyomatosis (LAM) is a rare condition in which cells that resemble muscle tissue cells grow in the lung. It's most common in females in their reproductive years, though healthcare providers have seen it in females after menopause. It also affects the kidneys and lymphatic system.

LAM tends to worsen slowly over time, though it can also progress rapidly.

Symptoms

Symptoms of cystic lung disease caused by LAM include:

• Shortness of breath (dyspnea)
• Chest pain during deep breathing
• Cough that doesn't go away
• Low blood oxygen
• Collapsed lung (pneumothorax)
• Fluid leaking into the chest (pleural effusion)
• Respiratory failure

It can also cause a type of benign tumor in the kidneys.

Causes

There are two forms of LAM, sporadic LAM (S-LAM) and tuberous sclerosis LAM (TSC-LAM). Healthcare providers don't know the cause of sporadic LAM, which is less common than TSC-LAM.

Tuberous sclerosis LAM is a genetic disease associated with benign tumors in several vital organs, including the lungs. The hormone estrogen may also play a role, and LAM sometimes stops progressing in females after menopause who have lower estrogen levels. Males with the genetic mutation almost never develop symptoms.

Diagnosis

Cystic lung disease, including LAM, can be difficult to diagnose because the symptoms resemble other lung diseases that cause coughs and breathing difficulties. Healthcare providers use several approaches to diagnose LAM.

A lung function test assesses how well your lungs are working. A CT scan is an imaging study that can show the cysts that characterize LAM. A blood test or lung biopsy (removal of tissue to analyze in the lab) can help confirm a diagnosis.

Treatment

Healthcare providers may prescribe a medication called Rapamune (sirolimus), which is usually given to help prevent the rejection of transplanted organs. In some females with sporadic LAM, it can reduce symptoms and improve how well the lungs work.

A medication called Afinitor (everolimus) is a form of sirolimus that may help reduce the symptoms of tuberous sclerosis LAM. It is not approved by the Food and Drug Administration (FDA) for this purpose, but healthcare providers can use it "off-label."

As LAM progresses, some females will need supplemental oxygen or asthma medications called bronchodilators. In those whose lung function is severely limited, a lung transplant can extend life expectancy.

Prognosis

Many females with LAM progress slowly, but in some, LAM worsens more rapidly. Although LAM can severely reduce lung function and lead to serious complications in the kidneys and bones, life expectancy has increased. Females with LAM can live for 20 or more years after a LAM diagnosis.

Pulmonary Langerhans Cell Histiocytosis (PLCH)

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare cystic lung disease strongly linked to smoking. It almost always occurs in young adults who are or were smokers.

Langerhans cells are involved in regulating the immune system, but they can interfere with breathing if there are too many of them in the lungs. PLCH may be mild or severe, and it may worsen over time. Stopping smoking may help reduce symptoms, but lung damage from PLCH is permanent.

Symptoms

Symptoms of PLCH include:

• Shortness of breath
• Severe, dry cough
• Chest pain with deep breaths
• Lung infections
• Collapsed lung (pneumothorax)
• Scarred lung tissue

Over time, you may lose weight, have difficulty with daily activities due to shortness of breath, and begin to cough up blood. PLCH is also associated with an increased risk of lung cancer. Some experts consider it a form of cancer.

Causes

Substances in tobacco smoke increase the number of Langerhans cells in the lungs of some people. These cells may suppress the immune system, allowing cysts to form.

Diagnosis

Healthcare providers diagnose PLCH by looking at a CT scan of the lungs. They will also test lung function and perhaps take a small sample of lung tissue (biopsy) to study it in the lab for signs of PLCH.

Treatment

There are no specific medications for PLCH, but you may be prescribed:

• Corticosteroids, often prednisone
• Chemotherapy drugs
• Methotrexate, which can act as an immunosuppressant

People with more severe cases may receive:

• Supplemental oxygen
• Pulmonary rehabilitation, including exercise and lifestyle changes
• Surgical procedure to repair a collapsed lung
• Lung transplant

Prognosis

PLCH can vary from very mild to severe, and the course of the disease is unpredictable. Stopping smoking is one of the best actions a person with PLCH can take to improve their prognosis.

Birt-Hogg-Dubé Syndrome (BHD)

Birt-Hogg-Dubé syndrome (BHD) is another rare condition that causes cystic lung disease. It usually appears in adults between 30 and 40. It's considered a skin disorder, but more than 80% of people with BHD develop lung cysts.

Symptoms

Birt-Hogg-Dubé syndrome causes growths on the body's surface and in the lungs. Symptoms include:

• Benign tumors that develop in hair follicles on the face, neck, and chest, increasing in number and size
• Air-filled lung cysts that may not cause loss of lung function but may lead to collapsed lungs
• Benign tumors in the kidneys

Causes

Birt-Hogg-Dubé syndrome is an inherited disease caused by a mutation in a gene that makes a protein called folliculin, which may help suppress tumors.

Diagnosis

Healthcare providers diagnose BHD by examining the skin for BHD tumors. They will ask about a history of collapsed lungs and check for kidney tumors. They may do a biopsy to study a sample of skin tissue. A CT scan can detect lung cysts.

A DNA test can confirm the BHD diagnosis. If someone has BHD, other family members are advised to be screened for the mutation.

Treatment

Cystic lung disease due to BHD may not require treatment. Though there may be recurrent lung collapses, the lungs sometimes recover on their own. Other instances of lung collapse may require surgery.

Prognosis

BHD increases the risk for kidney cancer, but it is not considered a life-threatening disease, and most people with BHD live an average life span.

Lymphoid Interstitial Pneumonia (LIP)

Lymphoid interstitial pneumonia (LIP) is also associated with cystic lung disease. The cysts develop in the spaces between the air sacs in the lungs, called "interstitial" spaces, which inflames the lungs. It's often found most often in people in their 50s, but it can occur at any age and develops in children with AIDS.

Symptoms

The symptoms of LIP include:

• Shortness of breath
• Cough
• Fever
• Weight loss
• Scarring of lungs

Causes

Many people with LIP have other conditions, including autoimmune diseases (in which the immune system mistakenly attacks a person's body), lymphoma (cancer associated with the lymphatic system), and vascular diseases.

It's also found in people with certain viral diseases, including HIV, Epstein-Barr, and a virus that can cause a kind of leukemia (blood cancer) called T-cell leukemia.

Diagnosis

Healthcare providers diagnose LIP by assessing symptoms and medical history. A CT scan or other imaging tests and a biopsy can confirm whether or not a person has LIP.

Treatment

Some people with LIP do not have symptoms and don't require treatment. For those who do, treatment includes:

• Corticosteroids
• Chemotherapy if cancer is present
• Supplemental oxygen

Other treatments will address conditions that accompany LIP, such as lymphoma or AIDS.

Prognosis

The outlook for people with LIP varies, and because it is so rare, there is a lack of data. In some people, it leads to lymphoma. It can also lead to respiratory failure. However, some people may not require treatment, and sometimes it gets better on its own. People usually respond to treatment, but it does tend to recur in many individuals.

Summary

Cystic lung disease describes a group of conditions marked by lung cysts. It is usually associated with another disease that leads to cyst formation. The cause and type of cysts can vary, but all may cause breathing difficulties, though not in all people.

Some forms of CLD can become serious and even life-threatening, while others may not cause symptoms in some people. Treatment for CLD depends on the cause and may include steroids and, in more severe cases, supplemental oxygen or a lung transplant for those who are candidates.

CLD may or may not affect the life span of those with it, which sometimes depends on other associated conditions.

A Word From Verywell

A disease that makes you cough and makes it hard to breathe can be scary. Today's treatments for CLD can alleviate or reduce symptoms.

There are things you can do to help you cope with CLD, including not smoking and living a healthy lifestyle. You can avoid activities that stress your lungs, like airplane travel or scuba diving. Your healthcare team can recommendation diet and exercise that are good for the lungs and help you retain lung function.