P02-033 - CAPS diagnosis and treatment in an Israeli family

Case Report We confirmed the Muckle-Wells syndrome phenotype of CAPS by NLRP3 genetic testing in a three generation family of Turkish Jewish origin, previously diagnosed with familial Behcet disease due to the presence of mucosal ulcers in several family members with the finding of the HLA-B51 antigen in at least one family member. Eight family members including a deceased grandfather, 4 of his daughters and three grandchildren had brief episodes of fever and chills, accompanied by headache, myalgia, arthralgia, and an urticarial skin rash. Most family members had substantial hearing loss. None developed amyloidosis. Four family members tested for a NLRP3 pathogenic variant had the known NM_001243313.1: c.1043C>T, p.Thr348Met variant[2]. Following initiation of treatment with canakinumab (150 mg every 8 weeks) and colchicine for mucosal ulcers all disease symptoms resolved and acute phase reactants normalized except for persistent headaches in one grandchild and tinitus in another. The health-related quality of life of the treated grandchildren markedly improved.