What is Sarcoidosis?
Sarcoidosis is a disease that leads to inflammation of the organs. When the immune system sends cells to protect the organs, the cells cluster to form lumps called granulomas in the organs. Though it can affect any organ in the body, it typically begins in the lungs, skin, and/or lymph nodes. It often affects the eyes and liver, and, less commonly, the heart and brain.
When many granulomas form in an organ, its functioning will be affected. This will cause symptoms that vary based on the affected organ.
What is the prevalence of Sarcoidosis?
Sarcoidosis can affect people of all ethnicities at all ages, but is usually developed before 50 years. Its incidence peaks at 20-39 years. It affects approximately 47-64 in 100 000 people.
How is Sarcoidosis diagnosed?
Initially, a doctor will perform a physical examination to check for signs and symptoms of Sarcoidosis. To confirm the diagnosis, chest X Rays, Lung Function tests, and Biopsies may be performed.
Is there any specific gene/pathway in Sarcoidosis that has been identified?
Research is still being conducted on the genetic inheritance of Sarcoidosis. However, there has been some correlation between mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and sarcoidosis susceptibility. Chromosome 5, the BTNL2 gene on chromosome 6, and the annexin A11 and RAB23 genes have also been associated with sarcoidosis.
How is Sarcoidosis treated?
Sarcoidosis symptoms tends to improve without treatment within a few months or years. However, simple over-the-counter painkillers such as ibuprofen to relieve pain.
Prescribed medication for sarcoidosis is usually prednisolone corticosteroid tablets, which reduces inflammation, prevents scarring and minimizes damage to affected organs. Calcium or vitamin supplements may also be given to reduce the risk of osteoporosis caused by long-term use of the prednisolone corticosteroid tablets. In more serious cases of sarcoidosis, immunosuppressants may be recommended as treatment. These drugs reduce activity of the immune system, and thus improve symptoms.
Are there any clinical trials underway for Sarcoidosis?
Yes, there are around 230 clinical trials currently being conducted around the world. The WHO International Clinical Trials Registry has a list of the trials that are recruiting patients. More information for the trial at NIH can be found here.
How can RareShare be helpful to Sarcoidosis patients and families?
The Sarcoidosis Rareshare Community has 31 members. There are currently 6 discussions underway, helping to connect patients, health workers, caregivers and families interested in Sarcoidosis and providing them continual access to community resources.
RareShare, MGCI Cancer Society and RG Chapter