BACKGROUND: The susceptibility gene for familial cold autoinflammatory syndrome (FCAS) has been mapped to chromosome 1q44 and a point mutation determined to be present in all affected members of a large Canadian kindred. Anakinra (Kineret) is known to block IL-1 receptor and in the few patients with FCAS in whom it has been used, it has been shown to provide relief for this lifelong disability. OBJECTIVE: To demonstrate the efficacy and safety of anakinra (Kineret) in FCAS. METHODS: Eight affected family members aged 29 to 77 years received anakinra 100 mg subcutaneously daily for 4 weeks preceded and followed by a 2-week control period. RESULTS: The treatment was rapidly effective paralleled by the immediate fall of the C-reactive protein and serum amyloid A protein. The only significant side effect was an injection-site reaction in 50%, which declined in the follow-up period. The effect was sustained in all who continued to use the treatment at 4 and 16 months of follow-up. CONCLUSION: This is the first treatment of FCAS that is completely effective while it is used.
BACKGROUND: The susceptibility gene for familial cold autoinflammatory syndrome (FCAS) has been mapped to chromosome 1q44 and a point mutation determined to be present in all affected members of a large Canadian kindred. Anakinra (Kineret) is known to block IL-1 receptor and in the few patients with FCAS in whom it has been used, it has been shown to provide relief for this lifelong disability. OBJECTIVE: To demonstrate the efficacy and safety of anakinra (Kineret) in FCAS. METHODS: Eight affected family members aged 29 to 77 years received anakinra 100 mg subcutaneously daily for 4 weeks preceded and followed by a 2-week control period. RESULTS: The treatment was rapidly effective paralleled by the immediate fall of the C-reactive protein and serum amyloid A protein. The only significant side effect was an injection-site reaction in 50%, which declined in the follow-up period. The effect was sustained in all who continued to use the treatment at 4 and 16 months of follow-up. CONCLUSION: This is the first treatment of FCAS that is completely effective while it is used.