MUCKLE-WELLS SYNDROME CAUSED BY A NEW CRYOPIRIN MUTATION: EFFECTIVE TREATMENT WITH INTERLEUKIN-1 ANTAGONIST

Abstract

A significant progress in the field of molecular-biological investigations resulted in definition of a new group of systemic diseases referred to as autoinflammatory. This group comprises familial periodic fevers: periodic disease (mediterranean fever), Muckle-Wells syndrome, others cryopirinopathy, TRAPS-syndrome. As shown by case reports, Muckle-Wells syndrome is not a rare disease, its sporadic forms are encountered as well as a less severe variant of cryopirinopathy — nonallergic cold urticaria. Awareness of the physicians in respect of this pathology is essential especially because early diagnosis enables control of this disease with use of biological preparations the spectrum of which tends to expansion. Moreover, arrest of inflammation is necessary for prevention of development and progression of such prognostically poor complication as AA-amyloidosis.

Keywords

• familial periodic fevers
• autoinflammatory diseases
• muckle-wells syndrome
• familial cold urticaria
• nomid/cinca syndrome
• cryopirinopathy
• aa-amyloidosis