Rare Diseases: Sarcoidosis
Sarcoidosis (pronounced sar-coy-doe-sis) may not be a well known condition but it does affect about 1 in every 10,000 people. This potentially fatal inflammatory condition causes the body’s immune system to produce groups of inflammatory cells that are then deposited in various organs. In 90% of patients sarcoidosis granulomas can be found in the lungs but they can also be found in the skin, heart, eyes, central nervous system, sinuses, liver and kidneys.
With no cure on the horizon, what else do we know about this auto-immune disease?
Sarcoidosis symptoms can vary in patients but can include:
- Painful joints
- Persistant cough
- Breathing difficulties
- Blood clots
- Abnormal heart rhythm
- Sore eyes
- Kidney stones
- Chest pain
It appears that the body’s immune system becomes overly active whilst attempting to protect itself from a threat that isn’t there. As the body overproduces microscopic clumps of inflammatory cells they lodge in various organs and cause damage. Whilst sometimes there can be very few symptoms, in cases of chronic sarcoidosis the damage caused by the granulomas can be fatal.
Sarcoidosis can have very similar symptoms to rheumatoid arthritis and lupus and is often misdiagnosed. In a recent case reported on the Foundation for Sarcoidosis Research website, a patient thought that he had asthma for years but it turned out to be sarcoidosis. His doctor prescribed Prednisone for his ‘asthma’ symptoms which continued to worsen resulting in lung and heart damage.
What causes Sarcoidosis?
No-one is really sure what the cause of this disease is. It’s been noted that women tend to suffer from it more than men and that people of Scandinavian descent have a higher occurrence of sarcoidosis. African Americans also have a higher likelihood of developing sarcoidosis. That said, this disease can affect people from all backgrounds and races but it does seem more prevalent in adults from the ages of 20 to 40.
Although there is no proven genetic connection, there is a higher risk of developing sarcoidosis if a family member has also developed it. This leads scientists to believe that there are hereditary factors involved.
Often sarcoidosis is diagnosed as a result of a routine exploration for another condition. A
chest x-ray for a persistent cough could present evidence of granulomas in the lungs for example. After thorough testing, a treatment plan, often including steroids, is put into action to help prevent further damage to organs. Pulmonary hypertension is a significant complication of sarcoidosis and it’s presence increases the risk to mortality. Whilst a lung transplant could be a viable option, it’s also a risky one with no known cure for sarcoidosis.
The Foundation for Sarcoidosis Research’s Executive Director, Virginia Spitzer, will be speaking at the 51st Annual DIA 2015 Meeting. The foundation has also recently partnered with the American Thoracic Society for their Sarcoidosis Lung Week. Research studies that they are involved in include an investigation into the efficacy and safety of oral antimycobacterial therapy in patients with confirmed progressive pulmonary sarcoidosis.
Which rare diseases have you highlighted in your student education material?