Sarcoidosis

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at May 31, 2016
StartDiseasesSarcoidosis

Sarcoidosis is an inflammatory condition that affects multiple organs in the body. The condition causes structural changes to affected organs and may cause abnormal organ function as well. While there is no cure for sarcoidosis, many people with this condition respond well to treatment.

Contents

Definition & Facts

Sarcoidosis is a condition in which very small masses of inflammatory cells (granulomas) form in the body's organs. Although any organ can be affected, the lungs, lymph nodes, skin, and eyes are most commonly affected. Granulomas can change an organ's structure and function. 

Symptoms & Complaints

Symptoms of sarcoidosis vary depending on which organs in the body are affected. Some people have subtle symptoms with gradual onset while others have severe symptoms that appear suddenly. Many people have no symptoms, and the condition is only discovered when they have a chest X-ray for another reason. 

Many people with sarcoidosis will initially present with unexplained weight loss, fatigue, swollen lymph nodes, and fever. When the lungs are affected, people with the disease may experience shortness of breath, wheezing, a persistent dry cough, and chest pain.

Some people with the condition will have disfiguring sores, called lesions, on the cheeks, nose, and ears. Skin discoloration may also be apparent on some areas of the body. Growths underneath the skin can be seen, especially around tattoos and scars.

A rash or red bumps that are tender or warm to the touch may also be seen in people with sarcoidosis. Rashes or red bumps are most likely to appear on the ankles or shins. It is important for those with sarcoidosis to have their eyes checked because there are often no symptoms when the eyes are affected. However, when symptoms do occur, they may include eye pain, eye redness, blurred vision, and sensitivity to light

Other symptoms of the condition may include a hoarse voice, swollen joints and painful joints, kidney stones, cardiac arrhythmias (abnormal or missing heartbeats), an enlarged liver, tender lymph nodes in the armpits, groin, and neck, and heart failure.

Cysts in the bones may also develop, causing pain in the feet and hands. Finally, some individuals with sarcoidosis may experience meningitis, hearing loss, seizures, and psychiatric disorders, including depression, psychosis, or dementia, which indicates that the central nervous system has been affected. 

Causes

The cause of sarcoidosis is not known. However, some people may have a genetic predisposition to developing the disease, which can be triggered by environmental factors, such as dust, viruses, chemicals, or bacteria. People who have a family history of sarcoidosis tend to be at higher risk of developing the disease than those without a family history.

Women are more likely than men to develop the condition. Sarcoidosis may also be more severe, recur more often, and cause more long-term problems for African-Americans than for Caucasians. While the disease can develop at any age, it is most commonly seen in people between the ages of 20 and 29.

While many people with sarcoidosis will not suffer any long-term consequences of the disease, chronic complications can result from the condition. For instance, untreated sarcoidosis in the lungs can result in permanent lung scarring, making it difficult to breathe.

The condition can also affect how the body handles calcium, which can lead to kidney failure. Untreated inflammation in the eyes can lead to blindness. Though rare, sarcoidosis in the eyes can also cause glaucoma and cataracts. In addition, the disease can cause an abnormal heartbeat if granulomas form in the heart. While it is rare, sarcoidosis can be fatal. Death typically occurs as a result of complications with the lungs, brain, or heart. 

Diagnosis & Tests

Sarcoidosis can be a challenging disease to diagnose because people may initially present with few signs or symptoms, and often when symptoms do occur, they mimic the symptoms of other diseases. Doctors typically begin the diagnostic process by assessing a patient's medical history and family history and conducting a complete physical examination.

An X-ray of the chest may be ordered to look for inflammation of the lung and enlarged lymph nodes. A pulmonary function test may be conducted to measure a patient's lung function and how much oxygen the lungs are delivering to the blood as well. Blood tests may be ordered to assess a patient's liver and kidney functioning.

If sarcoidosis appears to be affecting a patient's heart or central nervous system, a magnetic resonance imaging (MRI) test or a positron emission tomography (PET) scan may also be ordered.

A biopsy may be done to look for granulomas in affected organs. Biopsies of the skin are the easiest to attain. However, biopsies may also be done on the lungs or lymph nodes if necessary. Finally, if a physician suspects complications from the disease, a computerized tomography (CT) scan may also be done. 

Treatment & Therapy

In half of all cases, sarcoidosis goes away on its own without treatment. Additionally, patients who have mild symptoms of the condition may not need treatment. While there is no cure for the condition, there are several medications available to treat those who experience severe sarcoidosis symptoms. 

Corticosteroids are often the first line of treatment for the disease. Corticosteroids are powerful anti-inflammatory medications. They can be taken orally or applied directly to the skin in cream form or to the eyes in eye drop form. Medications like azathioprine and methotrexate may also be prescribed. These medications reduce inflammation by suppressing a person's immune system

Hydroxychloroquine may be useful for patients with skin lesions or elevated blood-calcium levels. Additionally, tumor necrosis factor-alpha (TNF-alpha) inhibitors may be helpful in reducing inflammation. TNF-alpha inhibitors are often utilized in the treatment of rheumatoid arthritis, and these medications are used for sarcoidosis when other treatment options have not been effective. Finally, organ transplants may be necessary if organs, such as the liver, kidneys, lungs, or heart are severely compromised by the disease. 

Prevention & Prophylaxis

Sarcoidosis cannot be prevented. It is advised that people who get any signs and symptoms of the disease get checked out by a doctor. Getting a diagnosis is important for patients to attain the treatment they need. Patients who get their symptoms treated as early as possible may be able to avoid long-term consequences of the disease.