Mevalonate Kinase Deficiency

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene. It is characterized by recurrent attacks of fever mostly associated with cervical lymphadenopathy, cutaneous, digestive, and musculoskeletal manifestations. Disease activity may decrease with time or remain high. Anti-interleukin-1 agents are often effective in controlling and preventing flares in patients with severe forms of MKD.