PRIMARY CARE
Recommendation 1
Medication management
Familial Cold Autoinflammatory Syndrome
Not Verified
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)
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
Recommendation 1
None is available, but can sign up to be notified when one becomes available
Sources
No data available
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