In about half of all sarcoidosis cases, the disease is detected by a routine chest x-ray before any symptoms develop. A general physician may refer patients to a specialist dealing in whichever organs are affected by the disease, such as a lung specialist (pulmonologist) for lung involvement.
The physical will review the medical history and perform a physical examination, which sometimes reveals swelling of salivary glands or lymph nodes in the neck. A series of laboratory tests and imaging tests may be ordered. Sarcoidosis is diagnosed only after other diseases with similar symptoms (e.g., rheumatoid arthritis, fungal infection, tuberculosis) have been ruled out.
The American Thoracic Society recommends a comprehensive initial evaluation, including:
* History, including occupational and environmental exposure
* Physical examination
* Chest x-ray
* Pulmonary function tests (breathing tests)
* Blood tests, including complete blood count and calcium and liver enzyme tests
* Urine tests
* Electrocardiogram (EKG)
* Eye examination
* Tuberculin skin test
Most physicians recognize the following criteria for a diagnosis of sarcoidosis:
* Spotting characteristic signs and symptoms of the disease and/or abnormalities in a chest x-ray.
* Ruling out infection, particularly tuberculosis and histoplasmosis (fungal infection usually seen in the lungs).
* Biopsy of granulomas (collections of inflammatory cells) that are not encasing foreign particles. A biopsy may not be performed if other findings are highly suggestive of sarcoidosis.
During a physical examination, a physician looks for symptoms of sarcoidosis and checks for other possible causes of the symptoms found. Laboratory and imaging tests typically follow. These tests include:
* Chest x-ray. Radiation is used to produce images of tissues inside the chest. According to the National Institutes of Health, about 90 percent of people with sarcoidosis will have an abnormal chest x-ray. Granulomas, which appear as distinctive shadowing in the lungs, and enlarged lymph nodes at the place where the lungs meet the heart or to the right of the trachea (windpipe) may be observed. When other characteristics of sarcoidosis, such as erythema nodosum (tender or painful discolored bumps on the shins), also appear, the chest x-ray may be all that is needed for diagnosis. A staging system is used depending upon the extensiveness of the disease on chest x-ray.
* Biopsy. Tissue is removed for laboratory examination. A biopsy of affected tissue reveals granulomas without encased germs or particles, which is very accurate. The sample used for biopsy can come from any affected organ and only one sample is necessary. The most convenient sources for tissue samples are skin lesions, enlarged lymph nodes close to the skin and granulomas on the conjunctiva (membrane over the eye and below the eyelid). Samples may also be taken from the lungs, liver or muscles.
* Pulmonary function tests. A device called a spirometer is used to evaluate lung function. The patient inhales and exhales into a tube, which records certain lung capacities. These tests are safe and easy, and their results are typically compared over time to monitor the disease. Various factors are measured in these tests, including:
- Lung strength. How much and how fast a person can blow air out of the lungs after taking a deep breath. Will be below normal if there is inflammation or scarring in the lung.
- Lung volume. How much air the lungs can hold. In some patients with sarcoidosis, the lungs may shrink and lung volume will be smaller than normal.
- Diffusing capacity. How well a gas moves into the bloodstream from the lungs. Sarcoidosis makes diffusion of oxygen from the lungs into the bloodstream more difficult.
In addition, a painless sensor called a pulse oximeter can be placed on the finger to estimate the level of oxygen in the blood.
* Blood tests. Numerous blood tests may detect different factors involved in sarcoidosis. For example, one test can reveal an elevated level of the gamma globulin antibody, which is common in black Americans with sarcoidosis. Other blood tests performed include:
- Complete blood count. Measures the numbers of red blood cells, white blood cells and platelets. Sarcoidosis often involves an insufficiency of white blood cells (leukopenia) and platelets (thrombocytopenia).
- Sedimentation rate. Detects inflammation in the body, which may be elevated for sarcoidosis.
- Enzyme tests. May test for several elevated enzymes, including angiotensin converting enzyme (ACE), which is produced in the granulomas. This test is positive in 60 percent of patients with sarcoidosis. Enzyme tests may be repeated after treatment to monitor relapse. Some tests indicate the levels of certain enzymes in the liver.
- Calcium test. Hypercalcemia (too much calcium in the blood) plays a larger role in deciding if treatment is needed because concentrations of calcium can build up and cause complications, particularly in the liver and kidneys. Prolonged hypercalcemia can also weaken bones and lead to osteoporosis. Calcium and other minerals can be measured in an electrolyte panel.
- Rheumatoid factor test. May be positive for sarcoidosis patients.
- Blood gases. Blood from an artery may measure levels of oxygen in the blood and help determine the level of lung function. Blood levels of carbon dioxide may also be tested.
* Urine tests. A urine analysis can detect hypercalciuria (too much calcium in the urine).
* Electrocardiogram (EKG). Measures electrical activity of the heart. An EKG may be used to detect arrhythmias (irregularities in heartbeat) that may occur if sarcoidosis affects the heart.
* Eye examinations. General physicians typically refer patients to an ophthalmologist (eye specialist) for eye tests even if there are no symptoms in the eyes. Ophthalmologists look into the eyes for abnormalities and test for color blindness and other vision troubles. Results can help in monitoring sarcoidosis and are likely to be repeated, particularly if certain drugs are being used.
* Tuberculin skin test. A skin test used to determine if tuberculosis is present. If it is, sarcoidosis can be ruled out.
* Bronchoscopy. A long, narrow, flexible tube (bronchoscope) is inserted into an airway of the lung. This allows physicians to examine the lung tissues and makes certain tests possible, including:
- Bronchoscopy biopsy. A sample of lung tissue is removed for laboratory analysis during bronchoscopy. This may assist in diagnosis when pulmonary function tests and chest x-rays are abnormal and characteristic of sarcoidosis, but no more easily accessed organs seem to be affected. It is usually very safe and performed as an outpatient procedure, with the patient mildly sedated.
- Bronchoalveolar lavage (lung wash). During bronchoscopy, saline (salt water) is injected into a region of lung and suction is used to remove it. The fluid contains washed-out cells and other materials from inside the lungs that are examined for signs of inflammation, such as a large number of white blood cells. However, these findings are not unique to sarcoidosis.
* Mediastinoscopy. A physician removes a sample of lymph nodes for biopsy from the mediastinum (space between the lungs) using one or more small incisions. Risks of this include bleeding, temporary hoarseness and an adverse reaction to the anesthetic.
* Other imaging tests. May be performed when a diagnosis is uncertain or an affected organ is difficult to reach with a biopsy. These tests include MRI, CAT scan and radionuclide imaging. An MRI can also detect early stages of cardiac damage caused by sarcoidosis, researchers have found.
MRI is an imaging test used in pain diagnosis, to guide treatment and to monitor for relapse. CAT scan is an imaging test used in pain diagnosis, to guide treatment and to monitor for relapse.
* Kveim-Siltzbach test. A standardized preparation of sarcoidosis-affected tissue is injected into the skin. The test is positive if a lump forms and biopsy of the lump reveals granulomas. However, it is not always positive, even when sarcoidosis is present. This test is not readily available in the United States and is rarely performed.
Physicians will also check for certain other conditions that may cause symptoms similar to sarcoidosis. These conditions include:
* Tuberculosis
* Histoplasmosis
* Lymphoma (lymph cancer)
* Rheumatoid arthritis
* Rheumatic fever
* Exposure to toxic substances, such as the metallic element beryllium
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