Sarcoidosis

About

Sarcoidosis

What is sarcoidosis?

Sarcoidosis is a rare inflammatory disease that causes small red patches of red, swollen tissue, called granulomas to develop in any organ of the body. These growths are most common in the lungs, lymph nodes, eyes, skin and heart. Symptoms vary depending on which organs it attacks.  

In most patients, sarcoidosis goes away by itself with only minimal treatment. However, in about a third of the people diagnosed with sarcoidosis, it can last for many years and require long-term treatment. The disease is considered chronic if it’s active for more than two to five years. Patients with chronic sarcoidosis may have organ damage that is debilitating, even life-threatening. There is no cure for sarcoidosis. It’s difficult to diagnose and has limited treatment options.

Causes

What causes sarcoidosis?

The cause is unknown. Some people have a genetic makeup that makes them more likely to develop the disease. It may be caused by an immune system response to an unknown substance. It can be triggered by bacteria, viruses, dust, chemicals, or a reaction to the body’s own proteins. These possible triggers cause the immune system to overreact, producing excessive immune cells. As the cells accumulate, and inflammation increases, granulomas are created. As the granulomas build up, the functioning of the organ on which they’re growing is affected. Chronic inflammation can lead to fibrosis, a permanent scarring of organ tissue. This is especially common in the lungs.

Who’s at risk for sarcoidosis?

Anyone can develop sarcoidosis, but people with these risk factors are more likely to have it: 

  • Age - It most often occurs in people between the ages of 20 and 60 years. 
  • Race - There’s a higher incidence of sarcoidosis among people of African or Northern European descent.
  • Heredity - Your risk increases if someone in your family has it.

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Symptoms

What are the symptoms of sarcoidosis?

Symptoms vary according to which organs are involved. Symptoms can develop slowly and last for years. Or, they are only diagnosed when a chest X-ray is done for another reason. 

General sarcoidosis symptoms usually include fatigue, swollen lymph nodes, weight loss, and painful, swollen joints. While sarcoidosis is associated with immune deficiency, patients are not considered to be immunocompromised. 

If sarcoidosis affects the lungs - the most common place - symptoms can include persistent dry cough, shortness of breath, wheezing and chest pain. If untreated, sarcoidosis in the lungs (pulmonary sarcoidosis) can cause permanent scarring, making it difficult to breathe.

Skin is another common location, and symptoms may include:

  • Rash of red and/or purplish bumps that can feel tender or warm; more common on ankles and shins
  • Lesions or sores on the nose, cheeks and ear that can become disfiguring
  • Patches of skin that are darker or lighter than normal
  • Growths under the skin (nodules)

Sarcoidosis can affect your eyes without causing symptoms. Be sure to have regular eye exams. It can cause inflammation in any part of your eye that can damage the retina. This damage can cause blindness, and occasionally cataracts and glaucoma. 

If you have eye symptoms they can include:

  • Blurred vision
  • Eye pain
  • Irritated, burning, itchy or dry eyes
  • Severe redness
  • Sensitivity to light

If sarcoidosis attacks your heart, it can disrupt heart rhythm and blood flow, and can be life-threatening in rare cases. Heart symptoms can include:

  • Chest pain
  • Shortness of breath
  • Fatigue
  • Fainting
  • Irregular heartbeats (arrhythmias)
  • Rapid, fluttering heart beat (palpitations)
  • Swelling caused by excess fluid (edema)

In the kidneys, sarcoidosis changes how your body processes calcium, which can affect kidney function, cause kidney stones, or kidney failure.

Rarely, sarcoidosis can cause granulomas to form in the brain or spinal cord, causing central nervous system problems, such as facial paralysis from inflamed face nerves.

About 10% of patients have advanced sarcoidosis, meaning they’ve had the disease for two to five years and it’s considered a chronic disease. Advanced cases also have worsening symptoms despite treatment, and require treatment even if the patient isn’t having symptoms. 

Other symptoms of advanced disease may include:

  • Inflammation
  • Fatigue
  • Pain
  • Cognitive problems (dementia)
  • Neuropathy
  • Depression
  • Limited mobility
  • Diabetes
  • High blood pressure

Diagnosis

How is sarcoidosis diagnosed?

Because symptoms can be vague or absent, an early diagnosis is difficult. Your doctor will start with a physical exam, and likely order diagnostic tests to rule out disorders with symptoms similar to sarcoidosis. Tests can include blood and urine tests, chest X-ray or CT scan, lung function tests, an ECG or EKG to detect heart problems, vision exam, PET scan or MRI. A biopsy may be taken to look for granulomas.

Treatment

What are the treatment options for sarcoidosis?

You may not need any treatment if you have no or mild sarcoidosis symptoms. If treatment is needed, it can include:

Medications for severe symptoms or if you’re in danger of organ function problems/failure. These medications may be prescribed:

  • Corticosteroids are powerful anti-inflammatories and are usually the first treatment for sarcoidosis
  • Immune system suppressants can also reduce inflammation
  • Hydroxychloroquine can help with skin lesions and high blood-calcium levels
  • Tumor necrosis factor-alpha inhibitor drugs are used to treat rheumatoid arthritis and may be prescribed if sarcoidosis hasn’t responded to other treatments

Physical therapy can help reduce fatigue and build muscle strength.

Pulmonary rehabilitation can help with breathing problems.

Cardiac pacemaker may be implanted to regulate irregular heartbeats and palpitations.

Surgery may be required to transplant a new organ if the disease has severely damaged your heart, lungs or liver.

Make better lifestyle choices by eating a healthy balanced diet, reaching and maintaining a healthy weight, managing stress, getting plenty of sleep, and getting exercise every day.

References

Mayo Clinic. (Jan. 2019). Sarcoidosis. Retrieved 8-13-21, {https://www.mayoclinic.org/diseases-conditions/sarcoidosis/symptoms-causes/syc-20350358}
Mayo Clinic. (Jan. 2019). Sarcoidosis. Retrieved 8-13-21, {https://www.mayoclinic.org/diseases-conditions/sarcoidosis/diagnosis-treatment/drc-20350363}
Foundation for Sarcoidosis Research. (n.d.). What is Sarcoidosis? Retrieved 8-13-21, {https://www.stopsarcoidosis.org/what-is-sarcoidosis/}
Hudspith, B.N., Flint, K.C., Geraint-James, D., et. al. (Apr. 1987). Lack of immune deficiency in sarcoidosis: compartmentalisation of the immune response. National Institutes of Health. Retrieved 8-13-21, {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC460694/}

Information

Medically reviewed by:

Dr Roy Kedem, MD

Dr Roy Kedem started his premedical studies at Harvard, and research in genetics and gene sequencing at Harvard, Beth Israel. He attended medical school in the UK at the Cambridge Overseas Medical Program in 1998. Dr Kedem then completed his residency in Internal Medicine at Columbia College of Physicians and Surgeons in Stamford, Connecticut and his fellowship in Hospital Medicine at the Cleveland Clinic in Cleveland, Ohio.

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