Cystic Lung Disease: Overview and More

Cystic lung disease (CLD) is a group of lung diseases in which your lungs develop multiple cysts (thin-walled sacs filled with air or fluid). CLD can make breathing difficult or painful. Treatment varies depending on the cause and severity. Here’s a look at cystic lung disease, including symptoms, causes, and treatment.

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Types of cystic lung disease

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

CLD is relatively uncommon in people under 55 but is increasing in older people. 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 lungs. It is most common in women in their reproductive years, although health care providers have seen it in postmenopausal women. It also affects the kidneys and lymphatic system.

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

symptoms

Symptoms of cystic lung disease caused by LAM include:

  • shortness of breath (dyspnea)
  • Chest pain when breathing deeply
  • cough that won’t go away
  • Low blood oxygen
  • collapsed lung (pneumothorax)
  • leakage of fluid into the chest (pleural effusion)
  • Apnea

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 are unaware of 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 halts progress in postmenopausal women who have lower levels of estrogen. Men with the genetic mutation almost never develop symptoms.

diagnosis

Cystic lung disease, including LAM, can be difficult to diagnose because symptoms resemble other lung diseases that cause coughing and difficulty breathing. Healthcare providers use multiple 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 for laboratory analysis) can help confirm a diagnosis.

treatment

Health care providers may prescribe a drug called Rapamune (sirolimus), which is usually given to prevent rejection of transplanted organs. In some women with sporadic LAM, it can reduce symptoms and improve lung function.

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

As LAM progresses, some women need supplemental oxygen or asthma medications called bronchodilators. If the lung function is severely restricted, a lung transplant can extend life expectancy.

forecast

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

Pulmonary Langerhans cell histiocytosis (PLCH)

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

Langerhans cells are involved in regulating the immune system, but can interfere with breathing if there are too many of them in the lungs. PLCH can be mild or severe and can get worse over time. Quitting smoking can help relieve symptoms, but lung damage from PLCH is permanent.

symptoms

Symptoms of PLCH include:

  • shortness of breath
  • Strong, dry cough
  • Chest pains on deep breaths
  • lung infections
  • collapse of the lungs (pneumothorax)
  • scarred lung tissue

Over time, you may lose weight, have difficulty with daily activities due to shortness of breath, and start coughing 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 in some people. These cells can suppress the immune system and allow cysts to form.

diagnosis

Healthcare providers diagnose PLCH by looking at a CT scan of the lungs. They will also test lung function and may take a small sample of lung tissue (biopsy) for laboratory testing for signs of PLCH.

treatment

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

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

People with more severe cases may get:

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

forecast

PLCH can vary from very mild to severe and the course of the disease is unpredictable. Quitting 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 occurs in adults between the ages of 30 and 40. It’s considered a skin condition, but more than 80% of people with BHD develop pulmonary cysts.

symptoms

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

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

causes

Birt-Hogg-Dubé syndrome is an inherited disorder caused by a mutation in a gene that produces something called a protein folliculinwhich can 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 look for kidney tumors. They may perform a biopsy to examine a sample of skin tissue. A CT scan can detect lung cysts.

A DNA test can confirm the BHD diagnosis. If someone has BHD, it is recommended that other family members be screened for the mutation.

treatment

Cystic lung disease due to BHD may not require treatment. Although lung collapses can recur, sometimes the lungs recover on their own. Other cases of collapsed lungs may require surgery.

forecast

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

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 inflame the lungs. It is often most commonly found 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 the lungs

causes

Many people with LIP have other disorders, including autoimmune disorders (where the immune system mistakenly attacks a person’s body), lymphoma (cancer related to the lymphatic system), and vascular disorders.

It’s also found in people with certain viral diseases, including HIV, Epstein-Barr, and a virus that can cause a type 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 have no symptoms and do not need treatment. For those who do, treatment includes:

  • corticosteroids
  • Chemotherapy if cancer is present
  • Supplemental Oxygen

Other treatments treat conditions associated with LIP, such as lymphoma or AIDS.

forecast

The outlook for people with LIP varies, and because it is so rare there is a lack of data. In some people, this leads to lymphoma. It can also lead to respiratory failure. However, some people may not need treatment, and sometimes it gets better on its own. Patients usually respond to treatment, but in many people it tends to come back.

summary

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

Some forms of CLD can become serious and even life-threatening, while others may not cause any 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 candidates.

CLD may or may not affect the lifespan of those affected, sometimes depending on other comorbidities.

A word from Verywell

Having an illness that makes you cough and make it difficult to breathe can be scary. Today’s treatments for CLD can relieve or reduce symptoms.

There are things you can do to help manage CLD, including not smoking and living a healthy lifestyle. You can avoid activities that put a strain on your lungs, such as air travel or scuba diving. Your healthcare team can recommend diet and exercise that are good for your lungs and help you maintain lung function.

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