Familial Cold Autoinflammatory Syndrome (FCAS)

Familial Cold Autoinflammatory Syndrome (FCAS) is an extremely rare disease that is part of a group of rare conditions known as periodic fevers. It is an inherited condition, however the gene responsible for the condition has yet to be identified. FCAS typically presents itself with periodic episodes of fever and discomfort, migratory arthritis (joint pain), anorexia, rash, abdominal symptoms and general malaise (feeling of illness) after exposure to cold temperatures. The severity of symptoms varies greatly between individuals but usually resolves itself after a few days.

How is FCAS Diagnosed?

FCAS is diagnosed by a combination of symptoms, medical history and laboratory tests. These tests may include genetic testing, X-rays or other imaging techniques, and detection of the elevated levels of inflammatory markers in the blood. Genetic testing can help confirm a diagnosis by ruling out other conditions.

Treatment for FCAS

There is no cure for FCAS but there are treatments that can help reduce the severity of symptoms. These treatments include:

Nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation and pain
Corticosteroids to reduce inflammation and swelling
Anabolic steroids to stimulate muscle growth
Immunosuppressive drugs to suppress the immune system
Biologic agents such as interleukin-1 receptor antagonists to block the action of certain immune system proteins

It is important to note that no two individuals will react in the same way to different treatments. So it is important to work closely with your doctor to find the best treatment for you.

Living with FCAS

Living with FCAS can be challenging as there is no cure. But paired with an accurate diagnosis, the right treatment and a positive outlook, FCAS can be managed effectively. To ease symptoms, it is important to:

Avoid cold temperatures as much as possible
Rest and avoid physical activity when symptoms flare up
Eat a healthy diet
Reduce stress
Stay up-to-date with immunizations

If you have any questions or concerns about Familial Cold Autoinflammatory Syndrome (FCAS), be sure to talk to your doctor.