Familial cold autoinflamatory syndrome (FCAS)

Familial Cold Autoinflammatory Syndrome (FCAS), also known as Familial Cold Urticaria, is a rare genetic disorder characterized by recurrent episodes of rash, arthralgia, fever, and conjunctivitis after exposure to cold temperatures. It is a type of autoinflammatory disease, which are caused by errors in the innate immune system.

Etiology

FCAS is caused by mutations in the NLRP3 gene (also known as CIAS1), which encodes a protein called cryopyrin. Cryopyrin is part of the inflammasome, a protein complex that plays a crucial role in the immune response to infection and injury. Mutations in the NLRP3 gene result in continuous activation of the inflammasome, leading to overproduction of a molecule called interleukin-1 beta (IL-1β), which promotes inflammation and fever.

Clinical Features

The symptoms of FCAS typically begin in infancy or early childhood. The most common symptoms include a rash, joint pain (arthralgia), fever, and red eyes (conjunctivitis) after exposure to cold temperatures. Other symptoms may include fatigue, nausea, headache, and muscle pain. The severity and duration of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of FCAS is based on the clinical symptoms and a family history of the disease. Genetic testing can confirm the diagnosis by identifying a mutation in the NLRP3 gene. Other tests may include blood tests to measure levels of IL-1β and other inflammatory markers.

Treatment

Treatment of FCAS is aimed at managing symptoms and preventing complications. This may include avoiding exposure to cold temperatures, taking nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce pain and inflammation, and taking medications to block the effects of IL-1β. In severe cases, patients may require treatment with biologic drugs that target specific components of the immune system.

Prognosis

With appropriate treatment, most individuals with FCAS can lead normal lives. However, the disease can be debilitating and significantly impact quality of life. Long-term complications can include hearing loss, kidney damage, and amyloidosis, a condition characterized by the buildup of abnormal proteins in the body's organs and tissues.

See Also

• Autoinflammatory diseases
• Innate immune system
• Interleukin-1 beta
• Amyloidosis

NIH genetic and rare disease info

• NIH info on Familial cold autoinflamatory syndrome (FCAS)

Familial cold autoinflamatory syndrome (FCAS) is a rare disease.

Familial cold autoinflamatory syndrome (FCAS) Resources
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