Sarcoidosis is a disease which can affect many organs within the body. It causes the development of granulomas. Granulomas are masses resembling little tumors. They are made up of clumps of cells from the immune system.
Sarcoidosis is a very puzzling disorder. In addition to having no clear-cut understanding of the cause of sarcoidosis, researchers are also puzzled by its distribution in the world population. In the United States, for example, 10-17 times as many African-Americans are affected as white Americans. In Europe, whites are primarily affected.
Prevalence is a way of measuring the number of people affected per 100,000 people in a given population. The prevalence figures for sarcoidosis are very unusual. In the United States, prevalence figures range from five (5/100,000 in the United States) for whites to 40 for blacks. In Europe, prevalence ranges from three in Poland, to 10 in France, to 64 in Sweden, to 200 for Irish women living in London. Furthermore, a person from a group with very low prevalence who leaves his or her native land for a second location with a higher prevalence will then have the same risk as anyone living in that second location.
Sarcoidosis affects both men and women, although women are more likely to have the disorder. The average age for diagnosis is around 20-40 years.
Causes and symptoms
The cause of sarcoidosis is not known. Because the granulomas are primarily made up of cells from the immune system (macrophages and lymphocytes), an immune connection is strongly suspected. One of the theories which has been put forth suggests that exposure to some toxic or infectious material starts up an immune response. For some reason, the body is unable to stop the response, and it spreads from the original organ to other organs.
Because sarcoidosis has been noted to occur in family groups, a genetic cause has also been suggested. Research shows that identical twins are more likely to both have sarcoidosis than are nonidentical twins or other siblings.
Some cases of sarcoidosis occur without the patient even noting any symptoms. These cases are often discovered by chance during routine chest x rays. Most cases of sarcoidosis, however, begin with very nonspecific symptoms, such as decreased energy, weakness, and a dry cough. Occasionally, the cough is accompanied by some mild pain in the breastbone (sternum). Some patients note that they are having unusual shortness of breath while exercising. Some patients develop fever, decreased appetite, and weight loss.
Virtually every system of the body has the potential to suffer the effects of sarcoidosis:
- tender reddish bumps (nodules) or patches often appear on the skin
- the eyes may become red and teary, and the vision blurry
- the joints may become swollen and painful (arthritis)
- lymph nodes in the neck, armpits, and groin become enlarged and tender, lymph nodes within the chest, around the lungs, also become enlarged
- fluid may accumulate around the lungs (pleural effusion), making breathing increasingly difficult
- nasal stuffiness is common, as well as a hoarse sound to the voice
- cysts in the bone may cause pain in the hands and feet, or in other bony areas
- the bone marrow may decrease the production of all blood cells; decreased number of red blood cells causes anemia, fewer white blood cells increases the chance of infections, fewer platelets can increase the chance of bleeding
- the body's ability to process calcium often becomes abnormal, so that excess calcium passes through the kidneys and into the urine; this may cause kidney stones to form
- the liver may become enlarged
- the heart may suffer a variety of complications, including abnormal or missed beats (arrhythmias), inflammation of the covering of the heart (pericarditis ), and an increasing tendency toward weak, ineffective pumping of the blood (heart failure)
- the nervous system may display the effects of sarcoidosis by hearing loss, chronic inflammation of the coverings of the brain and spinal cord (meningitis ), abnormalities of the nerve that is involved in vision (optic nerve dysfunction), seizures, and the development of psychiatric disorders
Any, all, or even none of the above symptoms may be present in sarcoidosis.
Diagnosis depends on information from a number of sources, including the patient's symptoms, the physical examination, x-ray pictures of the chest, and a number of other laboratory examinations of blood or other tissue. None of these categories of information are sufficient to make the diagnosis of sarcoidosis. There is no one test or sign or symptom which clearly points to sarcoidosis, excluding all other types of diseases. This is because nearly all of the symptoms and laboratory results in sarcoidosis also occur in other diseases. Diagnosis, then, requires careful consideration of many facts.
The physical examination in sarcoidosis may reveal the characteristic skin lesions. Wheezes may be heard throughout the lungs. The liver may be enlarged. Examination of the eyes using a special light called a slit-lamp may reveal changes indicative of sarcoidosis.
The chest x ray will show some pattern of abnormalities, which may include enlargement of the lymph nodes which drain the lung, scarring and abnormalities to the tissue of the lungs, and fluid accumulation around the lungs.
Lung function tests measure such things as the amount of air an individual can breathe in and breathe out, the speed at which the air flows in and out, and the amount of air left in the lung after blowing out as much as possible in one second. A variety of lung function tests may show abnormal results in sarcoidosis.
Other types of tests may be abnormal in sarcoidosis. The abnormal test results may also indicate other diseases. They include an elevation of a substance called angiotensin-converting enzyme in the blood, and an increased amount of calcium present in 24 hours worth of urine.
Bronchoscopy is a very helpful diagnostic test. This involves passing a tiny tube (bronchoscope) through the nose or mouth, down the trachea, and into the airways (bronchial tubes). The bronchial tubes can be inspected through the bronchoscope. The bronchoscope is also designed in such a way as to allow biopsies to be obtained. Bronchoalveolar lavage involves washing the surfaces with a sterile saltwater (saline) solution. The saline is then retrieved and examined in a laboratory. Cells and debris from within the bronchial tubes and the tiny sacs of the lung (the alveoli) will be obtained in this way, and can be studied for the presence of an abnormally large number of white blood cells. A tiny piece of the lung tissue can also be obtained through the bronchosocope. This can be studied under a microscope to look for the characteristic granulomas and inflammation of sarcoidosis.
A gallium 67 scan involves the injection of a radioactive material called gallium 67. In sarcoidosis, areas of the body which are inflamed will retain the gallium 67. These areas will then show up on the scan.
Many cases of sarcoidosis resolve without treatment. If treatment is needed, the most effective one for sarcoidosis is the administration of steroid medications. These medications work to decrease inflammation throughout the body. The long-term use of steroid medications has serious potential side-effects. Patients are only treated with steroids when the problems caused by sarcoidosis are particularly serious. Many cases of sarcoidosis resolve without treatment.
The prognosis for sarcoidosis is quite good. About 60-70% of the time, sarcoidosis cures itself within a year or two. In about 20-30% of patients, permanent damage occurs to the lungs. About 15-20% of all patients go on to develop a chronic, relapsing form of sarcoidosis. Death can be blamed on sarcoidosis in about 10% of all sarcoidosis cases.
Until researchers are able to pinpoint the cause of sarcoidosis, there will be no available recommendations for how to prevent it.
Granuloma— Masses made up of a variety of immune cells, as well as fibroblasts (cells which make up connective tissue).
Immune system— The system of specialized organs, lymph nodes, and blood cells throughout the body which work together to prevent foreign invaders (bacteria, viruses, fungi, etc.) from taking hold and growing.
Zitkus, Bruce S. "Sarcoidosis: Varied Symptoms Often Impede Diagnosis of this Multisystem Disorder." American Journal of Nursing 97, no. 10 (October 1997): 40+.
"Sarcoidosis." Gale Encyclopedia of Medicine, 3rd ed.. . Encyclopedia.com. (February 22, 2018). http://www.encyclopedia.com/medicine/encyclopedias-almanacs-transcripts-and-maps/sarcoidosis
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