Familial cold autoinflammatory syndrome type 2

Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. These episodes can be triggered by exposure to cold temperatures, or they may arise without warning, and they can last a few hours to several days. These episodes typically begin in childhood and persist throughout life.

Episodes typically occur after an hour or more of cold exposure in affected individuals who are sensitive to cold; however only a few minutes of cold exposure is required in some individuals.

In people with familial cold autoinflammatory syndrome type 2, the most common symptom that occurs during an episode is a fever. Other common features are an itchy rash and joint and muscle pain.

Additional features of familial cold autoinflammatory syndrome type 2 include abdominal pain, diarrhea, headache, and nausea. Some affected individuals develop hearing loss (sensorineural deafness) due to chronic inflammation.