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Hereditary Cryopyrin-Associated Periodic Syndromes (Cryopyrinopathies)

By Stephen E. Goldfinger, MD, Harvard Medical School;Massachusetts General Hospital

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The hereditary cryopyrin-associated periodic syndromes are a group of autoinflammatory conditions triggered by cold ambient temperatures; they include familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem autoinflammatory disease.

Hereditary cryopyrin-associated periodic syndromes represent a spectrum of progressively severe disease. They are due to mutations in the gene encoding the protein, cryopyrin, which mediates inflammation and IL-1β processing. Cryopyrin activity is augmented, triggering increased release of IL-1β from inflammasomes; the result is inflammation and fever.

Typically, familial cold autoinflammatory syndrome causes a cold-induced urticarial rash accompanied by fever and sometimes arthralgias. The condition often appears in the first year of life.

Muckle-Wells syndrome causes intermittent fevers, urticarial rash, joint pain, and progressive deafness; 25% of patients develop renal amyloidosis.

Neonatal-onset multisystem autoinflammatory disease tends to cause joint and limb deformities, facial deformities, chronic meningitis, cerebral atrophy, delayed development, and amyloidosis, in addition to fever and a migratory urticarial rash. As many as 20% of patients die by age 20.

Cryopyrin-associated periodic syndromes are inherited as autosomal dominant disorders. They are treated with anakinra or etanercept.

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