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Sarcoidosis is a disease characterized by the growth of tiny collections of inflammatory cells (granulomas) in any part of your body — most commonly the lungs and lymph nodes. But it can also affect the eyes, skin, heart and other organs.
The cause of sarcoidosis is unknown, but experts think it results from the body's immune system responding to an unknown substance. Some research suggests that infectious agents, chemicals, dust and a potential abnormal reaction to the body's own proteins (self-proteins) could be responsible for the formation of granulomas in people who are genetically predisposed.
There is no cure for sarcoidosis, but most people do very well with no treatment or only modest treatment. In some cases, sarcoidosis goes away on its own. However, sarcoidosis may last for years and may cause organ damage.
Symptoms
Signs and symptoms of sarcoidosis vary depending on which organs are affected. Sarcoidosis sometimes develops gradually and produces 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 disease may be discovered only when a chest X-ray is done for another reason.
General symptoms
Sarcoidosis can begin with these signs and symptoms:
- • Fatigue
- • Swollen lymph nodes
- • 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:
- • Persistent dry cough
- • Shortness of breath
- • Wheezing
- • Chest pain
Skin symptoms
Sarcoidosis may cause skin problems, which may include:
- • A rash of red or reddish-purple bumps, usually located on the shins or ankles, which may be warm and tender to the touch
- • Disfiguring sores (lesions) on the nose, cheeks and ears
- Areas of skin that are darker or lighter in color
- • Growths under the skin (nodules), particularly 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 signs and symptoms do occur, they may include:
- • Blurred vision
- • Eye pain
- • Burning, itching or dry eyes
- • Severe redness
- • Sensitivity to light
Heart symptoms
Signs and symptoms related to cardiac sarcoidosis may include:
- • Chest pain
- • Shortness of breath (dyspnea)
- • Fainting (syncope)
- • Fatigue
- • Irregular heartbeats (arrhythmias)
- • Rapid or fluttering heart beat (palpitations)
- • Swelling caused by excess fluid (edema)
Sarcoidosis can also affect calcium metabolism, the nervous system, the liver and spleen, muscles, bones and joints, the kidneys, lymph nodes, or any other organ.
Causes
Doctors don't know the exact cause of sarcoidosis. Some people appear to have a genetic predisposition to develop the disease, which may be triggered by bacteria, viruses, dust or chemicals.
This triggers an overreaction of your immune system, and immune cells begin to collect in a pattern of inflammation 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 increase your risk include:
- Age and sex. Sarcoidosis can occur at any age, but often occurs between the ages of 20 and 60 years. Women are slightly more likely to develop the disease.
- Race. People of African descent and those of Northern European descent have a higher incidence of sarcoidosis. African-Americans are more likely to have involvement of other organs along with the lungs.
- Family history. If someone in your family has had sarcoidosis, you're more likely to develop the disease.
Complications
Sometimes sarcoidosis causes long-term problems.
- Lungs. Untreated pulmonary sarcoidosis can lead to permanent scarring in your lungs (pulmonary fibrosis), making it difficult to breathe and sometimes causing pulmonary hypertension.
- Eyes. Inflammation can affect almost any part of your eye and may cause damage to the retina, which can eventually cause blindness. Rarely, sarcoidosis also can cause cataracts and glaucoma.
- Kidneys. Sarcoidosis can affect how your body handles calcium, which can lead to kidney stones and reduce kidney function. Rarely, this can lead to kidney failure.
- Heart. Cardiac sarcoidosis results in granulomas in your heart that can disrupt heart rhythm, blood flow and normal heart function. In rare instances, this may lead to death.
- Nervous system. A small number of people with sarcoidosis develop problems related to the central nervous system when granulomas form in the brain and spinal cord. Inflammation in the facial nerves, for example, can cause facial paralysis.
Diagnosis
Sarcoidosis can be difficult to diagnose because the disease often produces few signs and symptoms in its early stages. When symptoms do occur, they may mimic those of other disorders.
Your doctor will likely start with a physical exam and discuss your symptoms. He or she will also listen carefully to your heart and lungs, check your lymph nodes for swelling, and examine any skin lesions.
Diagnostic tests can help exclude other disorders and determine what body systems may be affected by sarcoidosis. Your doctor may recommend tests such as:
- • Blood and urine tests to assess your overall health and how well your kidneys and liver are functioning
- • Chest X-ray to check your lungs and heart
- • Computerized tomography (CT) scan of the chest to check your lungs
- • Lung (pulmonary) function tests to measure lung volume and how much oxygen your lungs deliver to your blood
- • Electrocardiogram (ECG or EKG) to detect heart problems and monitor the heart's status
- • 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 seems to be affecting your heart or central nervous system
Other tests may be added, if needed.
Biopsies
Your doctor may order a small sample of tissue (biopsy) be taken from a part of your body believed to be affected by sarcoidosis to look for the granulomas commonly seen with the condition. For example, biopsies can be taken from your skin if you have skin lesions and from the lungs and lymph nodes if needed.
Treatment
There's no cure for sarcoidosis, but in many cases, it goes away on its own. You may not even need treatment if you have no symptoms or only mild symptoms of the condition. The severity and extent of your condition will determine whether and what type of treatment is needed.
Medications
If your symptoms are severe or organ function is threatened, you will likely be treated with medications. These may include:
- Corticosteroids. These powerful anti-inflammatory drugs are usually the first line treatment for sarcoidosis. In some cases, corticosteroids can be applied directly to an affected area — via a cream to a skin lesion or drops to the eyes.
- Medications that suppress the immune system. Medications such as methotrexate (Trexall) and azathioprine (Azasan, Imuran) reduce inflammation by suppressing the immune system.
- Hydroxychloroquine. Hydroxychloroquine (Plaquenil) may be helpful for skin lesions and elevated blood-calcium levels.
- Tumor necrosis factor-alpha (TNF-alpha) inhibitors. These medications are commonly used to treat the inflammation associated with rheumatoid arthritis. They can also be helpful in treating sarcoidosis that hasn't responded to other treatments.
Other medications may be used to treat specific symptoms or complications.
Other treatments
Depending on your symptoms or complications, other treatments may be recommended. For example, you may have physical therapy to reduce fatigue and improve muscle strength, pulmonary rehabilitation to decrease respiratory symptoms, or an implanted cardiac pacemaker or defibrillator for heart arrhythmias.
Ongoing monitoring
How often you see your doctor can vary based on your symptoms and treatment. Seeing your doctor regularly is important ― even if you don't need treatment.
Your doctor will monitor your symptoms, determine the effectiveness of treatments and check for complications. Monitoring may include regular tests based on your condition. For example, you may have regular chest X-rays, lab and urine tests, EKGs, and exams of the lungs, eyes, skin and any other organ involved. Follow-up care may be lifelong.
Surgery
Organ transplant may be considered if sarcoidosis has severely damaged your lungs, heart or liver.