Coexistence of mevalonate kinase and familial mediterranean fever gene variants: a case report

Autores: Ana María Vallejo, José S. Cortés, Luis Javier Cajas

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Systemic autoinflammatory diseases include mevalonate kinase deficiency (MKD/HIDS), caused by variants in MVK and characterized by recurrent inflammatory episodes. We present a case from the Hospital Universitario Nacional, in Bogotá, Colombia, of a 20-year-old woman with a 4-year history of periodic fever every 15-20 days, arthralgias, abdominal pain, odynophagia, and a petechial rash on the lower limbs. During flares she had leukocytosis with elevated C-reactive protein and erythrocyte sedimentation rate; immunoglobulin D levels were normal. Colchicine and prednisone were started with partial improvement; subsequently, canakinumab was initiated. Genetic testing confirmed MVK c.803T>C (p.I268T) in heterozygosity and a variant in MEFV. After the third dose of canakinumab, clinical and inflammatory remission was sustained, allowing steroid reduction. MKD/HIDS should be considered in periodic fever with cutaneous/articular manifestations, even with normal IgD levels. Canakinumab achieved complete and safe disease control in this case, contributing Latin American evidence on the p.I268T variant.