Patients with a disease called sarcoidosis have inflammation in different parts of the body. The disease causes small masses of cells called granulomas to form, usually in the eyes, on the skin, or in the lymph nodes; the disease almost always affects the lungs as well. Sometimes it goes away, but other times it can lead to organ damage or even death. Sarcoidosis is what killed the comedian Bernie Mac, and it affects millions of people, including boxer Evander Holyfield and actress Karen Duffy. Left untreated, chronic sarcoidosis can, depending on where granulomas are, cause trouble breathing, blindness, central nervous system disorders, facial paralysis, kidney failure, and heart failure.
It can be difficult to distinguish between the more serious and more benign types of the condition. Four in five cases will clear up without treatment, but treatment is important in other cases, and so it is vital for doctors to know what they’re dealing with. This is complicated, however, because the initial symptoms of both—wheezing, dry cough, shortness of breath, chest pain—are identical. Researchers have found, however, that patients the complicated form that gets worse have a particular sequence of 20 genes in blood samples that patients with the uncomplicated form that goes away do not have. A simple test can be used to tell the difference.
In addition to providing a valuable diagnostic tool, this research provides further evidence of a genetic component to sarcoidosis. While the exact cause of sarcoidosis is unknown, it is more common in African Americans, in women, and in people with a family history of the disease. Most cases of sarcoidosis are diagnosed in patients between 20 and 40. The disease is associated with the production of a specific protein and appears to be triggered by airborne contaminants; recent studies point to mold growth as a possible trigger, though there may be others in addition.
There is no cure for chronic sarcoidosis. If there is no indication that the affected organs are at risk of failure no management may be needed. If there is some risk, anti-inflammatory drugs such as corticosteroids can be used to get the inflammation to go down. Immune suppressants are sometimes also used.