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| Disease found: | Familial Cold Autoinflammatory Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Inherited inflammatory disorder characterized by CIAS1/NLRP3 mutations leading to intermittent episodes of rash, fever, and joint pain triggered by exposure to cold [more info] |
| Signs and Symptoms: | Rash, fatigue, recurrent fever and chills, recurrent joint pain, and recurrent conjunctivitis, headache [more info] |
| Diagnosis: | Confirmation of the diagnosis is achieved through DNA gene analysis and the identification of a CIAS1/NLRP3 mutation(4) [more info] |
| Treatment: | Arcalyst (Rilonacept), NSAIDs, Ilaris (Canakinumab), Kineret (Anakinra) [more info] |
| Clinical Management: | Medication management [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |