Rare Lung Diseases

What are rare lung diseases?

Rare lung diseases are serious, chronic (ongoing) conditions that affect your lungs. Your lungs are part of your respiratory system. They perform gas exchange, moving oxygen into your bloodstream and moving carbon dioxide out of your bloodstream.

Medical experts have identified hundreds of rare lung diseases, also called rare respiratory or pulmonary diseases. A rare disease is any condition that affects fewer than 200,000 people in the U.S. or up to 350,000 people in Europe.

Rare lung conditions usually worsen over time. Some may be life-threatening. Most of these diseases have no cure. Though researchers continue to study new treatments, lung transplant surgery is often a patient’s best treatment option. A lung transplant replaces a diseased lung or lungs with healthy lungs from a deceased donor.

What conditions are rare lung diseases?

A wide range of disorders can affect your lungs. Rare lung diseases include:

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) results in low blood levels of AAT, a protein made by your liver. This condition can raise your chances of developing lung and liver diseases such as chronic obstructive pulmonary disease (COPD) — which used to be referred to as emphysema (damaged air sacs in your lungs) — and cirrhosis (liver scarring). Providers treat AATD with:

• Augmentation therapy (increasing your AAT levels with infusions of AAT).
• Lung transplant surgery.
• Medications.
• Oxygen therapy.
• Pulmonary rehabilitation.

Cystic fibrosis

Cystic fibrosis (CF) causes thick, sticky mucus to build up in the lungs, pancreas and other organs. CF is a genetic disease. Though there is no cure for CF, airway clearance therapy — manual physical therapy or a device that helps clear the mucus — can help manage symptoms. Providers also treat CF with:

• Antibiotics — both inhaled or intravenous (directly into the vein).
• Anti-inflammatory drugs.
• Inhaled enzymes.
• Lung transplantation.
• Medications.

Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a type of incurable pulmonary hypertension. PAH occurs when the arteries in your lungs thicken and narrow. This restricts blood flow and raises blood pressure in your lungs. PAH may be caused by:

• Congenital heart abnormalities.
• Connective tissue disorders.
• Genetics.
• Infections.
• Liver cirrhosis.
• Medications.

Interstitial lung diseases

Interstitial lung diseases include more than 200 lung disorders. These conditions all involve progressive (worsening) scarring of the interstitium (in-ter-STI-she-um). The interstitium is where the lungs’ alveoli meet blood vessels to exchange oxygen and carbon dioxide.

Interstitial lung diseases include:

Beryllium disease: Chronic beryllium disease (CBD) results in lung inflammation. This leads to the development of clusters of inflammatory cells (granulomas) that scar your lungs. CBD results from inhaling powder or fumes of beryllium. Beryllium is a metal used to make cars, computers, golf clubs and other equipment. Corticosteroids can help you manage symptoms.

Hypersensitivity pneumonitis: Hypersensitivity pneumonitis (HP) causes lung inflammation that can lead to permanent scarring. HP results from breathing in environmental allergens, including:

• Bacteria.
• Chemicals.
• Mold.

Providers treat HP with:

• Bronchodilators.
• Corticosteroids.
• Immunosuppressive medications.
• Oxygen therapy.

Idiopathic pulmonary fibrosis: Idiopathic pulmonary fibrosis causes thickening, stiffness and scarring of lung tissue. “Idiopathic” means the cause is unknown, though researchers have found that genes may account for 35% to 40% of the risk . Though no cure exists, medications can help relieve symptoms. Some medications may even slow the progression of the disease and delay the need for oxygen and lung transplant.

Lymphangioleiomyomatosis: With lymphangioleiomyomatosis (LAM), smooth muscle cells block your airways and cysts form on your lungs. This causes problems with breathing. Gene mutations (changes) lead to LAM. One of these gene changes is hereditary (passed down through families) and one has unknown causes. Providers treat LAM with:

• Lung transplant.
• Medication (sirolimus, an immune-suppressing drug).
• Oxygen therapy.
• Pulmonary therapy.

Nonspecific interstitial pneumonia: Nonspecific interstitial pneumonia (NSIP) causes inflammation of the air sac (alveoli) walls of your lungs. The cause of NSIP is unknown. But researchers suspect NSIP occurs due to:

• Autoimmune diseases.
• Chemotherapy drugs.
• Genes.
• Inhaling chemicals or dust.
• Radiation therapy.

Providers treat NSIP with:

• Corticosteroids.
• Immune-suppressing drugs.

Pulmonary alveolar proteinosis: Pulmonary alveolar proteinosis (PAP) leads to a buildup of proteins, fats and other substances in your alveoli. Researchers suspect an immune system problem causes PAP. Providers commonly treat PAP with whole-lung lavage (washing). They wash one lung at a time with saline and feed the other lung with oxygen.

Sarcoidosis: Sarcoidosis causes nodules (granulomas) to form in your lungs. The cause of sarcoidosis is unknown, though researchers suspect genes and environmental factors. Treatment includes:

• Chemotherapy drugs.
• Corticosteroids.
• Corticotropin injections.
• Malaria drugs.
• TNF inhibitors (used to treat rheumatoid arthritis).

How common are rare lung diseases?

Individual rare lung diseases affect only a limited number of people. But they have a large total impact. Altogether, rare pulmonary diseases affect about 1.2 million to 2.5 million people in North America.

Who might get rare respiratory diseases?

Respiratory diseases can affect people of all ages and ethnicities. When a rare respiratory disease (like CF) has a genetic cause, it may first appear in a baby.

Some rare lung diseases, such as LAM, are more prevalent in women. Others, such as PAP, are more prevalent in men.

Why are rare lung diseases often called orphan lung diseases?

Researchers often refer to rare lung diseases as “orphan lung diseases.” People with these diseases may feel “orphaned” in the medical world. They can have trouble finding healthcare providers who can diagnose and treat their conditions.

Orphan diseases don’t receive much research. Some of them have no specific standard of treatment.

Some rare lung diseases, such as PAH, are no longer considered orphan diseases after researchers and providers give them more attention.

What causes rare lung diseases?

Many rare lung diseases are genetic disorders. Babies are born with disease-causing changes encoded in their genes. But some diseases may not develop until later in life.

The causes of rare pulmonary diseases also include:

• Environmental exposures, including breathing in asbestos, bird droppings, coal dust, mold, tobacco smoke or other chemicals.
• Infections from bacterial, viral or fungal causes.
• Medications, such as antibiotics, anti-inflammatory drugs, chemotherapy drugs or heart medications.
• Other health disorders, including autoimmune diseases (when your immune system harms your body) such as dermatomyositis and polymyositis, lupus, rheumatoid arthritis or scleroderma.
• Unknown causes, or idiopathic disease.

What are the symptoms of rare pulmonary disease?

Rare pulmonary disease symptoms vary from person to person, depending upon the disease. Many rare lung diseases include these common symptoms:

• Chronic chest pain.
• Chronic or continuous coughing, crackling or wheezing while breathing.
• Chronic mucus production.
• Difficulty breathing.
• Fatigue.
• Recurring chest infections, such as bronchitis or pneumonia.
• Shortness of breath (dyspnea), especially during exercise.
• Weight loss.

What parts of the lungs do these rare diseases affect?

Most rare lung diseases cause damage to one or more of these parts of your lungs:

• Air sacs (alveoli), where your lungs and blood exchange gases.
• Airways (bronchial tubes), which transport air in and out of your lungs.
• Tissues that surround the alveoli and bronchial tubes.

What are the complications?

Rare lung diseases tend to worsen over time. They can cause long-term damage to your lungs and other organs, such as your heart.

How do healthcare providers diagnose rare lung diseases?

To help diagnose your condition, your provider will ask about symptoms and family history. Healthcare providers may gather other medical details, including your exposure to environmental hazards and your current and past medications. You may have:

• Blood tests: Blood samples help your provider rule out other illnesses.
• Bronchoscopy: Your healthcare provider inserts a thin scope into your airways. A bronchoscopy sometimes includes a bronchoalveolar lavage. Your provider uses a saline solution to wash your airways and collect a fluid sample. They may also obtain tissue biopsies during this procedure, using either a needle of forceps.
• Genetic tests: Your provider takes blood samples to test for abnormal genes.
• Imaging tests: Your provider can see lung scarring or rule out other conditions with a chest X-ray or CT (computed tomography) scan.
• Lung biopsy: Your provider removes a small lung tissue sample for study under a microscope. They may use a needle biopsy (a needle guided by an X-ray), a bronchoscopic biopsy or a surgical biopsy. The type of biopsy will depend on the condition the provider suspects and the type of analysis they would need to diagnose it correctly.
• Oxygen desaturation study: This test measures the oxygen levels in your blood.
• Pulmonary function tests: Lung function tests show how well your lungs breathe in and exhale air.

Providers usually diagnose certain rare lung diseases, such as cystic fibrosis (CF), during childhood. Every U.S. state requires newborn screening for CF at birth and several weeks later.

Many providers may not recognize rare lung diseases. Symptoms can mimic other conditions. If your symptoms continue, see a respiratory provider or pulmonologist (lung doctor). These specialists have expertise in diagnosing and treating pulmonary diseases.

How do healthcare providers treat rare lung diseases?

Providers often treat rare lung diseases with medications used to treat other conditions. Treatments usually help slow the progression of the disease rather than cure it. Depending on the pulmonary disease, treatments may include:

• Airway clearance therapy to treat cystic fibrosis by loosening mucus from your airways.
• Bronchodilators, inhalers that clear mucus from your lungs to make breathing easier.
• Medications, such as corticosteroids, immune-suppressing drugs, antibiotics and enzymes. These drugs can make it easier for you to breathe.
• Oxygen therapy, providing extra oxygen through a mask or tube in your nostrils to make breathing easier and improve your sleep.
• Whole-lung lavage, where a provider inserts a tube with saline into your lungs to clean them. Whole-lung lavage treats pulmonary alveolar proteinosis (PAP).

People with severe lung disease may need lung transplant surgery. A transplant is an option if other treatments don’t help. This surgery may prolong your life.

How can I manage my lung disease symptoms?

Researchers are developing new treatments for rare lung diseases. In the meantime, healthcare providers focus on treating the disorder's symptoms. Your team of providers may recommend:

• A targeted nutrition plan can help you maintain your weight and overall health.
• Pulmonary rehabilitation, including exercises and behavior changes that can improve your day-to-day life.

Can I prevent rare lung diseases?

It isn’t possible to prevent inherited rare lung diseases. But you can reduce your risk of developing some pulmonary diseases by:

• Quitting smoking.
• Wearing a respirator (a mask that filters particles from the air) around harmful substances, such as asbestos or chemicals.

If you have a family member with rare lung diseases that may be inherited, talk to your provider about genetic counseling. The counselor can help you learn about your risks and the risks of passing the condition on to your children.

What is the prognosis (outlook) for people with rare lung diseases?

The prognosis for people with rare lung diseases varies depending on the specific disease and severity of the disease. Many rare pulmonary diseases become more serious over time.

A lung transplant may stop the disease. Not everyone qualifies for a lung transplant or matches with a donor. Unfortunately, there are more people in need than there are donors.

Researchers are conducting many clinical trials on rare lung diseases in the U.S. and Europe. They continue to make advances that may lead to promising new therapies for these conditions.

Getting the right treatment and support for your disease can lead to a longer, healthier life. Treatment can also help you manage your symptoms and improve your quality of life.

When should I see my healthcare provider about a rare lung disease?

See your healthcare provider right away if you experience signs of lung disease. Always contact your provider if you develop new or worrisome symptoms.

If a rare lung disease runs in your family, you may choose to talk to your provider about genetic counseling before you have children. A genetic counselor can assess your risk and the risk of passing on a gene for an inherited lung disease.

A note from Cleveland Clinic

If you or a loved one has a rare lung disease, talk to your healthcare provider about the best ways to manage your symptoms and improve your quality of life. There are no cures for rare pulmonary diseases. But researchers continue to study promising new treatments for lung conditions that may prolong life. You may want to join a support group for people with your rare respiratory disease. The group can provide emotional support and help you find effective coping strategies.