Sarcoidosis is an autoimmune disease characterized by the growth of small accumulations of inflammatory cells (granulomas) in the body, especially in the lungs and lymph nodes. Its average incidence is 19 affected per 100,000 individuals.
Sarcoidosis
To date, the causes of sarcoidosis are unknown. The most accepted theory is that it is triggered by an external agent such as a bacterial or viral infection, or chemical substances, in genetically predisposed individuals. In addition, a number of factors have been identified that may increase the risk of sarcoidosis, such as:
- Age: It can occur at any age, but is more frequent between 20 and 60 years of age.
- Sex: women are somewhat more likely to develop the disease.
- Ethnic origin: people of African and Northern European origin have a higher incidence of the disease.
- Environment: constant exposure to certain chemical compounds that cause inflammation may increase the risk.
- Certain medical conditions such as lymphoma can lead to the development of sarcoidosis.
- Certain medications, such as antiviral drugs for the treatment of HIV or those based on monoclonal antibodies can increase the risk.
Symptoms
Sarcoidosis is a systemic disease that can affect any organ and is often asymptomatic. The most common symptoms are nonspecific including fatigue, weight loss, joint pain, blurred vision, dry cough or skin lesions, including redness or small nodules.
In addition, the kidneys, liver, heart or brain may be affected, which may cause certain alterations. The latter occurs in a very small percentage of those affected.
Prevention
Since its exact cause is unknown, sarcoidosis cannot be prevented. Once it appears, a high percentage, between 30 and 70%, do not require treatment due to the absence or mildness of symptoms and, in most cases, it disappears on its own.
When treatment is necessary, the most commonly used are corticosteroids, immunomodulators (methotrexate or azathioprine), hydroxychloroquine or TNF-alpha inhibitors. In addition, depending on the symptoms, other therapeutic actions such as physiotherapy may be recommended.
Number of observed variants
13.5 million variants
Number of loci analyzed
6 loci
Genes analyzed
Bibliography
FinnGen. FinnGen Documentation of R6 release 2022 [2022/01].
Sarcoidosis. National Library of Medicine: MedlinePlus (NIH).
Spagnolo P, Maier LA. Genetics in sarcoidosis. Curr Opin Pulm Med. 2021 Sep 1;27(5):423-429.
Sarcoidosis. Mayo Clinic [Jan 2019].
