[2006] [THU0495] MAINTENANCE ANAKINRA PREVENTS SYMPTOMS OF FAMILIAL COLD AUTOINFLAMMATORY SYNDROME AND RAYNAUD'S DISEASE

S.K. Metyas¹, H.M. Hoffman ^{2 1}Rheumatology, University of Southern California, Covina, ²Rheumatology Allergy and Immunology, University of California at San Diego, La Jolla, United States

Background: Familial cold autoinflammatory syndrome (FCAS), previously known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by recurrent episodes of rash, arthralgia, and fever after cold exposure. Recent evidence suggests that FCAS and other Cryopyrin associated diseases are primarily interleukin-1 (IL-1) driven diseases.
Case report: A 58 year old Caucasian female presented with an urticaria-like rash induced by exposure to cold. The rash was first noted at birth and is often associated with fever, chills, nausea, and arthralgia. The patient and several relatives have been diagnosed with FCAS. Two years ago, the patient developed severe pain and changing color of the hand secondary to exposure to cold. Subsequently, she developed gangrene and underwent amputation of the distal phalanges of her left index finger. Since that time, her FCAS episodes have been associated with symptoms consistent with Raynaud's disease. On examination, she has a severe generalized raised, red, and pruritic rash associated with tenderness of the small joints of the hands without synovitis. She was also noted to have Raynaud's phenomenon in both hands and feet. Laboratory evaluation showed increased CRP of 1.9 mg/dl and increased platelet count of 400, and WBCs was 10.9. She had a positive ANA with normal lupus panel and a positive antimicrosomal antibody. After informed consent, a trial of anakinra 100 mg SC daily was initiated. The patient improved significantly within 24 hours of the first dose with complete resolution of the rash. Interestingly, she also noticed improvement of her Raynaud's symptoms. A few weeks later, her anakinra was discontinued briefly during an upper respiratory infection and her rash recurred within 48 hours. After 4 months of anakinra treatment her FCAS and Raynaud's symptoms are completely controlled. Her repeat laboratory evaluation showed improvement of CRP to < 0.6, platelet count to 288, and WBCs was 6.3.
Conclusion: The remarkable response of FCAS and associated Raynaud's disease to anakinra suggests that IL-1 is an important mediator of these inflammatory diseases.

Miscellaneous rheumatic diseases