Sarcoidosis

Overview

Sarcoidosis is a condition that causes tiny collections of immune system cells in any part of the body. These tiny collections form red, swollen lumps called granulomas. Granulomas most commonly occur in the lungs and the lymph nodes of the chest. They also can occur in the eyes, skin, heart and other organs.

Experts don't know the exact cause of sarcoidosis, but it's likely a mix of genetic and environmental factors. Some people appear to have gene changes that make them more likely to develop sarcoidosis. The condition may then be triggered by bacteria, viruses, dust or chemicals. Their immune system overreacts to the trigger, causing inflammation that forms granulomas.

There is no cure for sarcoidosis, but most people do not need treatment. Sarcoidosis may go away on its own. Other people need treatment to lessen their body's immune system response. Sometimes sarcoidosis can last for years and may cause organ damage.

Symptoms

Symptoms of sarcoidosis vary, depending on which organs are affected and how badly they're affected. Sarcoidosis sometimes develops slowly over time and causes symptoms that last for years. Other times, symptoms appear suddenly and then disappear just as quickly. Many people with sarcoidosis have no symptoms, so the condition is found only when a chest X-ray is done for another reason.

General symptoms

Sarcoidosis can begin with these symptoms:

• Extreme tiredness.
• Slight fever.
• Swollen lymph nodes, such as in the chest, neck, armpits or groin.
• Weight loss.
• Pain and swelling in joints, such as the ankles.

Lung symptoms

Sarcoidosis most often affects the lungs and may cause lung problems, such as:

• Ongoing dry cough.
• Shortness of breath.
• A squeaking sound when breathing out, called wheezing.
• Chest pain.

Skin symptoms

Sarcoidosis may cause skin problems, which may include:

• A rash of small, itchy bumps, usually on the head, neck or legs. The rash may be painful.
• Open sores on the nose, lips, cheeks and ears, called skin lesions.
• Areas of skin that are darker or lighter in color.
• Growths under the skin, especially around scars or tattoos.

Eye symptoms

Sarcoidosis can affect the eyes without causing any symptoms, so it's important to have your eyes checked regularly. When eye symptoms do occur, they may include:

• Blurred vision.
• Eye pain.
• Watery eyes.
• Burning, itching or dry eyes.
• Severe redness.
• Sensitivity to light.

Heart symptoms

Symptoms related to cardiac sarcoidosis may include:

• Chest pain.
• Shortness of breath.
• Fainting.
• Heartbeats that aren't regular, called arrhythmias.
• Rapid or fluttering heartbeats, called palpitations.
• Swelling caused by extra fluid in the body.

Nervous system symptoms

Sarcoidosis can cause symptoms related to the brain and nerves, such as:

• Headaches.
• Dizziness.
• Changes in vision.
• Confusion.
• Weakness.
• Nerve pain, numbness or tingling.
• Seizures.

Other symptoms

Other symptoms are usually linked with the organs affected. Sarcoidosis can cause granulomas in any part of the body, such as the liver, spleen, muscles, bones and joints, kidneys, and lymph nodes.

When to see a doctor

See a doctor or other healthcare professional if you have symptoms that may be sarcoidosis.

Causes

The cause of sarcoidosis is not known. Experts think it results from a mix of genetic and environmental factors that cause the body's immune system to overreact to a substance it doesn't know.

Some people have gene changes that make their immune system more likely to overreact to triggers. Triggers could be bacteria, viruses, chemicals or dust. This causes immune cells to group into tiny collections of inflamed lumps called granulomas. As granulomas build up in an organ, the function of that organ can be affected.

Risk factors

While anyone can develop sarcoidosis, factors that may raise your risk include:

• Age and sex. Sarcoidosis can happen at any age, but often occurs between the ages of 20 and 60 years. Women are slightly more likely to develop the condition than are men.
• Race. Sarcoidosis occurs more often in people of African descent and those of Northern European descent. African Americans are more likely to have sarcoidosis in other organs along with the lungs.
• Job or hobbies. Working around chemicals and dust can raise your risk.
• Family history. If someone in your family has had sarcoidosis, you're more likely to get the condition.

Complications

Sometimes sarcoidosis causes long-term problems.

• Lungs. Pulmonary sarcoidosis that isn't treated can lead to scarring in the lungs that lasts forever. This scarring is called pulmonary fibrosis. Pulmonary fibrosis makes it hard to breathe and sometimes causes pulmonary hypertension.
• Eyes. Inflammation can affect almost any part of the eye. It may cause damage to the retina, which over time can affect vision. Sarcoidosis can cause cataracts and glaucoma.
• Kidneys. Sarcoidosis can affect how your body handles calcium. Sarcoidosis can result in too much calcium in the bloodstream, a condition called hypercalcemia. This can lead to kidney stones and affect how well the kidneys work. Rarely, long-term kidney disease can occur.
• Heart. Cardiac sarcoidosis results in granulomas in the heart. These can cause problems with heart rhythm, blood flow and heart function. Rarely, sarcoidosis results in heart problems that may cause death.
• Nervous system. Some people with sarcoidosis develop problems related to the central nervous system. This occurs when granulomas form in the nerves, brain and spinal cord. For example, granulomas in the facial nerves can cause paralyzed facial muscles.

Diagnosis

Sarcoidosis can be hard to diagnose because there may not be many symptoms in the early stages. When symptoms do occur, they may be much like those of other conditions.

Your healthcare professional does a physical exam and talks with you about your symptoms and possible risk factors. The healthcare professional also listens to your heart and lungs, checks your lymph nodes for swelling, and looks at any skin lesions.

No tests can specifically diagnose sarcoidosis. Tests can help rule out other conditions and show what body systems may be affected by sarcoidosis. For example, you may have:

• Blood and urine tests to check your overall health and how well your kidneys and liver are working.
• Chest X-ray to look at your lungs and heart.
• Computerized tomography (CT) scan of the chest to look at your lungs.
• Lung function tests, also called pulmonary function tests, to measure how much air you can breathe in and out and how much oxygen your lungs send to your blood.
• Electrocardiogram (ECG or EKG) and cardiac ultrasound to check for heart problems and look at your heart's health.
• Eye exam to check for vision problems that may be caused by sarcoidosis.
• Positron emission tomography (PET) scan or magnetic resonance imaging (MRI) if sarcoidosis may be affecting your heart or central nervous system.

Other tests may be added, if needed.

Biopsy

Your healthcare professional may take a small sample of tissue called a biopsy. The sample is taken from any part of your body that may be affected by sarcoidosis. The sample is used to look for the granulomas commonly seen with the condition. For example, biopsies can be taken from your skin, lungs and lymph nodes.

Treatment

There's no cure for sarcoidosis, but often sarcoidosis goes away on its own. You may not need treatment if you have no symptoms or only mild symptoms. If you need treatment, the type of treatment you have depends on how severe your symptoms are and what organs are affected. Treatment can lessen the body's immune system response and inflammation.

Medicines

If your symptoms are severe or affected organs aren't working properly, you may need medicines. These can include:

• Corticosteroids. These powerful medicines lessen inflammation. They're usually the first treatment tried for sarcoidosis. The medicine can be given as pills or shots. In some cases, corticosteroids can be put directly on the affected area. Examples of these types of medicines include cream put on skin lesions or rash, medicine breathed into the lungs using an inhaler, and drops put into the eyes.
• Medicines that lower the immune system's response. Medicines such as methotrexate (Trexall) and azathioprine (Azasan, Imuran) lessen inflammation by lowering the immune system's response to a trigger.
• Hydroxychloroquine. Hydroxychloroquine (Plaquenil) may be helpful for skin lesions and high blood-calcium levels.
• Tumor necrosis factor-alpha (TNF-alpha) inhibitors. These medicines are commonly used to treat inflammation from rheumatoid arthritis. They also can be helpful in treating sarcoidosis that hasn't responded to other treatments.

Other medicines may be used to treat specific symptoms or complications.

Other treatments

Depending on your symptoms or complications, you may need other treatments. For example, you may have:

• Physical therapy to lessen tiredness and strengthen muscles.
• Pulmonary rehabilitation to help ease breathing and do more activities.
• Implanted cardiac pacemaker or defibrillator for heart rhythm problems.

An organ transplant may be an option for some people if sarcoidosis has severely damaged the lungs, heart or liver.

Ongoing monitoring

How often you see your healthcare professional varies based on your symptoms and treatment. Seeing your healthcare professional regularly is important ― even if you don't need treatment.

Your healthcare professional monitors your symptoms and checks to see if you need treatment, how treatments are working and if you have complications. Ongoing monitoring may include tests based on your condition. For example, you may have regular chest X-rays, blood and urine tests, EKGs, and exams of your lungs, eyes, skin and other organs. Follow-up care is likely lifelong.

Lifestyle and home remedies

Along with your treatment, these self-care tips can help:

• Follow your treatment plan. Even if you start to feel better, don't stop taking your medicine without talking with your healthcare professional. Keep all follow-up appointments. Let your healthcare professional know if you have new or worsening symptoms.
• Make healthy lifestyle choices. These can include eating a healthy diet, working toward or keeping a healthy weight, managing stress, and getting enough sleep.
• Get regular physical activity. Regular physical activity or exercise can raise your mood, strengthen muscles and help lessen tiredness that can get in the way of your daily activities.
• Avoid lung irritants. As much as possible, stay away from smoke, dust, chemicals and other substances that irritate your lungs. If you smoke, talk with your healthcare professional about ways to quit.

Coping and support

Although sarcoidosis may go away on its own, some people's lives are forever changed by the condition. If you find it hard to cope with these changes, talk with a counselor or other mental health professional. Joining a sarcoidosis support group also may help.

Preparing for an appointment

Because sarcoidosis often involves the lungs, you may be referred to a lung specialist called a pulmonologist to manage your care. You may see other specialists too. Taking a family member or friend along can help you remember information.

What you can do

Here are some tips to help you get ready for your appointment and know what to expect from your healthcare professional.

Before your appointment, make a list of:

• Your symptoms, including when they started and how they may have changed or worsened over time.
• All medicines, vitamins, herbs or supplements you take. Include the doses.
• Key medical information, including other medical conditions you have.
• Questions to ask your healthcare professional.

Questions to ask may include:

• What's the most likely cause of my symptoms?
• What kinds of tests do I need? Do I need to do anything special to get ready for these tests?
• How might this condition affect me?
• What treatments are available? Which do you recommend?
• Will I take medicine that might help?
• How long will I need to take medicine?
• What are some of the side effects of the medicine you're suggesting?
• I have other health conditions. How can we best manage these conditions?
• What can I do to help myself?
• Are there any brochures or other printed materials that I can have?
• What websites do you suggest for more information?

Feel free to ask other questions during your appointment.

What to expect from your doctor

Your healthcare professional may ask you:

• What types of symptoms do you have? When did they start?
• What, if anything, makes your symptoms worse?
• What, if anything, makes your symptoms better?
• Has anyone in your family ever had sarcoidosis?
• What health conditions do you have now, or have you had in the past?
• What medicines or supplements do you take?
• Have you had jobs or hobbies that included being around substances such as chemicals, fumes or dust?
• Have you had any infections or other illnesses?

Be ready to answer questions so that you have time to talk about what's most important to you.