Primary care
Recommendation 1
Medication management
Familial Cold Autoinflammatory Syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
Common symptoms
Rashfatiguerecurrent fever and chillsrecurrent joint painand recurrent conjunctivitisheadache
When to suspect
Recommendation 1
Confirmation of the diagnosis is achieved through DNA gene analysis and the identification of a CIAS1/NLRP3 mutation(4)
How to test
Recommendation 1
Confirmation of the diagnosis is achieved through DNA gene analysis and the identification of a CIAS1/NLRP3 mutation(4)
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Arcalyst (Rilonacept), NSAIDs, Ilaris (Canakinumab), Kineret (Anakinra)
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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