Familial Cold Autoinflammatory Syndrome
Familial Cold Autoinflammatory Syndrome (FCAS) is a rare genetic condition characterized by recurrent episodes of fever and inflammation triggered by exposure to cold temperatures. Individuals with FCAS may experience symptoms such as skin rashes, joint pain, and fatigue, which can last for several days. The condition is caused by mutations in the NLRP3 gene, which plays a role in the body's immune response.
Diagnosis of FCAS typically involves a thorough medical history and genetic testing to identify the specific mutation. Treatment often includes medications like nonsteroidal anti-inflammatory drugs (NSAIDs) or interleukin-1 inhibitors to help manage symptoms and reduce inflammation. Early diagnosis and management can improve the quality of life for those affected.