In a project led by the University of Illinois Hospital & Health Sciences System, researchers have found a set of genetic biomarkers that could be developed into a blood test for the inflammatory disease sarcoidosis. This could help doctors diagnose patients, distinguishing them from people with other lung diseases, and pick out the patients who are most likely to develop the severe form of the disease, known as complicated sarcoidosis.
In sarcoidosis, small clumps (granulomas) of immune cells form in parts of the body, causing inflammation. Sarcoidosis almost always causes inflammation in the lungs, but it can also trigger symptoms in any part of the body, making diagnosis difficult. Treatment decisions are also complex, because at one extreme, in remitting sarcoidosis, patients will often get better on their own, but at the other extreme, complicated sarcoidosis can cause lung, heart and brain damage, and may even be fatal. However, in the early stages, there is no clinical difference between these two groups of people.
"One of the perplexing aspects of this disease is that two thirds of the people who get sarcoidosis get better with only minimal therapy," says Dr. Joe G.N. "Skip" Garcia of the University of Illinois, Chicago, in a press release.
The researchers took blood from people with remitting or complicated sarcoidosis as well as from healthy people. After analysis of genes expressed in the blood, they found a panel of 20 genes that could distinguish people with sarcoidosis from healthy people, and could identify those people with sarcoidosis at risk of progressing to the complicated form of the disease. The results were published in PLoS ONE.
Biomarkers that can separate sarcoidosis from other fibrotic lung diseases, and can also predict who will develop the most severe form, could help physicians provide the best support and avoid unnecessary tests and other interventions.
- read the press release
- see the abstract