Sarcoidosis Patient Education & Resources

Sarcoidosis in the lungs is referred to as pulmonary sarcoidosis. Granulomatous inflammation in the lungs from sarcoidosis may or may not cause symptoms. The inflammation can heal and disappear without treatment after 1-2 years, but in some patients ongoing inflammation in the lungs can lead to damage to the lung tissue and result in scarring or fibrosis. Fortunately, only 30% of pulmonary sarcoidosis patients will have scarring in the lungs.

What causes pulmonary sarcoidosis?

While there is currently no clear answer as to what causes pulmonary sarcoidosis, experts believe there may be a chemical, environmental, viral, or genetic association to the disease.

What are the symptoms of pulmonary sarcoidosis?

Many people with sarcoidosis do not have symptoms and probably don't know they have the disease. However, inflammation can affect lung function and lead to respiratory symptoms. Each patient may experience symptoms differently, but the following are the most common symptoms of pulmonary sarcoidosis:

• Shortness of breath, which often gets worse with activity
• Dry cough that will not go away
• Chest pain
• Wheezing

How is pulmonary sarcoidosis diagnosed?

Diagnosing sarcoidosis typically requires 3 things:

1. Symptoms and imaging findings consistent with sarcoidosis;
2. Biopsy showing collections of inflammatory cells called granulomas; and
3. Exclusion of other diseases that can have similar findings (including certain infections or cancer). Tests that you may undergo as part of your diagnosis may include:
   • Pulmonary Function Test (PFT)
   • Chest X-ray
   • Blood Tests
   • CT scan
   • Bronchoscopy
   • Lung Biopsy

How is pulmonary sarcoidosis treated?

Not all patients need treatment for pulmonary sarcoidosis, and many patients can be safely monitored off treatment if they have mild symptoms and no evidence that inflammation from sarcoidosis is causing damage or scarring in the lungs. Treatment may be necessary if patients have significant symptoms or worsening lung function.

Steroids are the "first-line" treatment for most sarcoidosis patients. Steroids and other medications for sarcoidosis work by suppressing the immune system, which decreases inflammation and improves symptoms.

"Second-line" treatment options are usually used when a patient has ongoing symptoms despite steroids, or when steroids must be stopped because of significant side effects. Second line options may include oral medications such as methotrexate, azathioprine, mycophenolate, and leflunomide.

“Third-line" options typically include infliximab, which is given as an intravenous infusion every 4 to 6 weeks, or Adalimumab, which is given as an injection under the skin every week.

Cardiac sarcoidosis is diagnosed when there is evidence that granulomatous inflammation involves the tissue of the heart. It can occur in 5-10% of sarcoidosis patients and can be found before or after patients are diagnosed with sarcoidosis in other organs.

What causes cardiac sarcoidosis?

Because cardiac sarcoidosis is rare, its cause remains unclear. The small number of patients makes it difficult for researchers and doctors to study the condition and understand why it affects the heart in some cases.

What are the symptoms of cardiac sarcoidosis?

Some people with cardiac sarcoidosis experience symptoms, while others may have none. Possible symptoms include:

• Irregular heartbeats
• Shortness of breath
• Swelling in the legs
• Feeling lightheaded or fainting

How is cardiac sarcoidosis diagnosed (FSR)?

Since sarcoidosis can affect multiple organs, doctors often check for signs in other parts of the body to help confirm the diagnosis. Finding it in one organ can make it easier to identify involvement in others.

Diagnosing cardiac sarcoidosis can be challenging because its symptoms often resemble those of other conditions. As a result, doctors may first look for more common causes. While only some patients face serious risks like heart failure or sudden death, early diagnosis is critical to help prevent these outcomes.

To diagnose cardiac sarcoidosis, doctors typically order a combination of tests, which may include:

• Electrocardiography (heart rhythm analysis done in the office).
• Echocardiogram (heart ultrasound that evaluates the function and motion of the heart walls and other structures).
• Cardiac Magnetic Resonance Imaging (MRI): specialized imaging that can show areas of scarring in the heart and is often used in the initial diagnosis of cardiac sarcoidosis.
• Cardiac Positron Emission Tomography (PET): specialized imaging that can show areas of active inflammation in the heart, and is often used to follow treatment response.

How is cardiac sarcoidosis treated?

Treatment for cardiac sarcoidosis focuses on managing symptoms and preventing long-term dam-age to the heart.

Steroids are usually the first treatment. They reduce inflammation by calming the immune system. Cardiac sarcoidosis often requires higher doses than other forms-starting with 40-60 mg of prednisone daily, then tapering to the lowest effective dose (ideally under 10 mg per day). Because steroids can cause side effects, your doctor will help weigh the risks and benefits.

If steroids don't work well enough or cause side effects, second-line treatments may be used, such as:

• Methotrexate
• Azathioprine
• Mycophenolate
• Leflunomide

If needed, third-line treatments include:

• Infliximab (IV infusion every 4 to 6 weeks)
• Adalimumab (weekly injection under the skin)

Heart medications may be added to control abnormal heart rhythms (arrhythmias). In some cases, catheter ablation is used to block the faulty electrical signals in the heart.
For patients at risk of life-threatening arrhythmias, an implantable cardioverter defibrillator (ICD) may be recommended. This device delivers a shock to restore normal heart rhythm if the heartbeat stops.

The nervous system includes the brain, spinal cord, and nerves. When sarcoidosis affects any of these areas, it's called neurosarcoidosis. This occurs in about 5–15% of people with sarcoidosis.

What causes neurosarcoidosis?

Currently, it is not clear why some patients may be more likely to get neurosarcoidosis than others.

What are the symptoms of neurosarcoidosis?

Symptoms depend on which part of the nervous system is affected. They can range from mild, like temporary facial numbness, to more serious issues such as seizures. Some symptoms may go away on their own, while others may be long-lasting and only partly improve with treatment. Symptoms may appear suddenly or develop over time. They can include:

• Facial weakness or paralysis (facial palsy)
• Headaches
• Eye pain or redness
• Blurred or double vision
• Vision loss or blindness
• Nausea and vomiting

How is neurosarcoidosis diagnosed?

Because sarcoidosis can affect multiple organs, doctors often look for signs in other parts of the body to help confirm the diagnosis. If sarcoidosis is already diagnosed elsewhere, that can be a clue when nervous system symptoms appear.

Nervous system symptoms are not usually the first signs of sarcoidosis. But if you already have sarcoidosis and develop symptoms like facial weakness, vision changes, or headaches, your doctor may suspect neurosarcoidosis. In some cases, though, neurosarcoidosis is the first sign of sarcoidosis, which can make diagnosis more challenging. It can mimic other neurological conditions and often requires multiple tests to rule out other causes.

Early diagnosis and treatment are important to help prevent serious complications like paralysis or vision loss—though these outcomes are rare. A sarcoidosis specialist, neurologist, or both are usually the best providers to manage this condition. If eye symptoms are present, an ophthalmologist or neuro-ophthalmologist may also be involved.

There’s no single test for neurosarcoidosis. Doctors may use a combination of the following:

• MRI – to look for inflammation or changes in the brain and spine
• Lumbar puncture – to test fluid around the brain and spinal cord
• Biopsy – of brain, nerve, or muscle tissue to confirm diagnosis

How is neurosarcoidosis treated?

Mild cases of neurosarcoidosis may not need treatment, but most people require long-term care to manage symptoms and reduce inflammation.

Steroids are usually the first treatment doctors try. They calm the immune system and reduce inflammation. Neurosarcoidosis often needs higher doses than sarcoidosis in other organs—typically starting with 40 to 60 mg of prednisone daily. The dose is then gradually reduced to the lowest amount that keeps symptoms under control, ideally under 10 mg per day.

Steroids and other medications can have side effects, so it's important to talk with your doctor about what's right for you.

If symptoms continue or if steroids cause serious side effects, doctors may recommend second-line treatments, such as:

• Methotrexate
• Azathioprine
• Mycophenolate
• Leflunomide

If these don’t work, third-line options may include:

• Infliximab (IV infusion every 4 to 6 weeks)
• Adalimumab (weekly injection under the skin)

In rare cases, surgery may be needed to remove granulomas from the brain or spine. If fluid builds up in the brain (hydrocephalus), a shunt may be placed to relieve pressure

What causes cutaneous sarcoidosis?

Cutaneous sarcoidosis happens when granulomas—clusters of immune cells—form in the skin. It affects about 25% of people with sarcoidosis. In roughly one-third of those cases, the skin is the only area involved.

While it doesn't usually affect overall health, cutaneous sarcoidosis can cause painful skin lesions. These may lead to skin damage or scarring.

What are the symptoms of cutaneous sarcoidosis?

Cutaneous sarcoidosis can be divided into two groups: "specific" lesions that show granulomas on biopsy, and "nonspecific" lesions that are related to sarcoidosis, but don't show granulomas on biopsy. Specific skin lesions can occur in many forms.

• Erythema Nodosum is the most common nonspecific skin lesion and is characterized by the appearance of tender bumps, about 1 to 2 cm in diameter, that occur mostly on the shins. It is often accompanied by arthritis in the ankles, and can be accompanied by fever and enlarged lymph nodes on chest x-ray. Erythema nodosum is usually found in acute forms of sarcoidosis, and 80% of patients usually see lesions heal completely within six months..
• Lupus Pernio is characterized by large and painful, bluish-red or dusky purple lesions that are most commonly seen on the nose and can lead to scarring. These lesions indicate a chronic condition, and often require treatment.
• Papules and Plaque-like Lesions are specific lesions that appear as raised, discolored areas of skin. These commonly occur on the face or neck, but can be seen in other areas.
• Scar Sarcoidosis is a specific skin lesion that occurs as raised bumps in tattoos or scars.

How is cutaneous sarcoidosis diagnosed?

Because sarcoidosis can affect multiple organs, doctors may look for signs in other parts of the body to help confirm the diagnosis.

Cutaneous sarcoidosis is usually diagnosed with a skin biopsy, where a small sample is taken and examined under a microscope. In some cases, when lesions look very typical of sarcoidosis, a biopsy may not be needed.

How is cutaneous sarcoidosis treated?

Typically, cutaneous sarcoidosis is first treated with topical corticosteroids creams.

Steroids are the "first-line" treatment for most sarcoidosis patients. Steroids and other medications for sarcoidosis work by suppressing the immune system, which decreases inflammation and improves the appearance of lesions. Other options may include hydroxychloroquine as well as "second-line" drugs such as methotrexate, azathioprine, mycophenolate or leflunomide. For very severe cases, "third-line" medications such as infliximab or adalimumab may be used.

Arrhythmia: A problem with the rate or rhythm of one's heart.

Biopsy: Removal of a small sample of tissue or cells to determine the cause of an abnormal finding or disease.

Bronchoscopy: An outpatient procedure performed by a pulmonologist. A small flexible tube ("bronchoscope") with a camera and light source allows the physician to evaluate abnormalities of the airways and surrounding structures. An ultrasound on the end of the bronchoscope allows the physician to find and biopsy lymph nodes in the chest as well. This is the most common biopsy procedure used to diagnose pulmonary sarcoidosis.

Cardiac Ablation: A procedure meant to diagnose or treat an abnormal heart rhythm that is performed by a cardiologist who specializes in the heart’s electrical activity.

Cardiac Sarcoidosis: Sarcoidosis found in the heart.

Cardiologist: A medical doctor that specializes in disorders and diseases associated with the heart and parts of the circulatory system.

Chest X-ray: A noninvasive imaging test that can take images of the heart, lungs, airways, blood vessels and bones of the spine and chest. This test can be useful to identify any abnormalities the might be consistent with sarcoidosis.

Chronic Sarcoidosis: Sarcoidosis that continues to be active for more than 2 to 5 years.

Computed Tomography (CT): A noninvasive imaging test that captures more detailed pictures of the chest or other areas than an x-ray. A CT of the chest may find mild abnormalities in the lungs that are not visible on chest x-rays.

Cutaneous Sarcoidosis: Sarcoidosis of the skin.

Dermatologist: A medical doctor that specializes in disorders and diseases associated with the skin.

Echocardiogram ("echo"): An outpatient, noninvasive imaging test that uses ultrasound to take pictures of your heart.

Electrocardiogram (ECG): An outpatient, noninvasive test that measures electrical activity of your heartbeat.

Erythema Nodosum: A skin lesion characterized by the appearance of tender red bumps that often appear on the lower legs.

Fibrosis: The formation of fibrous (scar) tissue in an organ. Fibrotic pulmonary sarcoidosis means there is scarring in the lungs.

Granuloma: A small collection of inflammatory cells seen on a biopsy in sarcoidosis.

Immune System: A network of cells and proteins that defend the body against infection.

Implantable Cardioverter Defibrillator (ICD): An implanted device that can stop life-threatening heart rhythms in patients with cardiac sarcoidosis.

Inflammation: One of the ways the body fights off things that will harm it, such as infections, injuries and toxins. While inflammation can be helpful, too much inflammation—as is seen in sarcoidosis—can cause damage to organs in the body.

Laboratory Test: A procedure in which a health care provider takes a sample of your blood, urine, or other bodily fluid to get information about your health. Most patients need "routine organ screening labs" at their initial visit to be sure sarcoidosis is not affecting organs such as the kidneys, liver, bone marrow, etc.

Lumbar Puncture (LP): A medical procedure in which a needle is inserted into the spinal canal to collect fluid for diagnostic testing. This test may be done as part of the evaluation for neurosarcoidosis.

Lupus Pernio: A skin lesion that appears as a raised lesion, typically on the nose, that can be bluish-red or dusky purple in color and is likely to result in scarring.

Magnetic Resonance Imaging (MRI): A noninvasive imaging test that takes detailed pictures of the organs and tissues in the body. If needed in a sarcoidosis patient, MRIs are used to diagnose and evaluate sarcoidosis in the nervous system and heart.

Nervous System: The network of nerve cells and fibers that transmit nerve impulses from one part of the body to another. It includes the brain, spinal cord, and nerve fibers throughout the body.

Neurologist: A medical doctor that specializes in disorders and diseases of the nervous system.

Neurosarcoidosis: Sarcoidosis found in the nervous system.

Ocular Sarcoidosis: Sarcoidosis in the eyes.

Ophthalmologist: A medical doctor that specializes in eye and vision care.

Paralysis: The loss of the ability to move because of an abnormality in the nervous system.

Papules: Skin lesions that appear as raised discolored areas of skin.

Positron Emission Tomography (PET): A noninvasive imaging test that helps reveal how your tissues and organs are functioning. This test can be useful in sarcoidosis to diagnose active inflammation from sarcoidosis in the heart or others organs, and can also be used to follow treatment response.

Pulmonary Function Test (PFT): A noninvasive breathing test that shows how your lungs are functioning. This test can measure your lungs' volume, capacity, rates of flow, and gas exchange.

Pulmonologist: A medical doctor that specialize in disorders and diseases associated with the respiratory system.

Pulmonary Sarcoidosis: Sarcoidosis found in the lungs.

Researcher: A professional who conducts research to improve our understanding of and treatment options for a disease.

Respiratory Therapist (RT): A certified medical professional who helps evaluate problems with your lungs or breathing.

Sarcoidosis: A multi-system inflammatory disease caused by the formation of inflammatory cells called granulomas.

Seizure: An abnormal electrical activity in the brain that happens suddenly and can result in spastic, jerking movement and loss of consciousness, and can result from neurosarcoidosis.

Social Worker (SW): A certified professional who works directly with you and your family to provide emotional support, counseling information, and assistance with insurance, places to stay and other community services.

Steroids: Anti-inflammatory medications (prednisone) used to treat a range of conditions including sarcoidosis.

Systemic Disease: A disease that affects multiple parts of one’s body.

Uveitis: Inflammation of the eye.