cryopyrin associated periodic syndrome (CAPS)

Classification

• familial cold autoinflammatory syndrome
• Muckle-Wells syndrome
• chronic infantile neurologic cutaneous articular syndrome

Epidemiology

• European ethnicity
• rare

Pathology

• inflammatory
• systemic amyloidosis
• hyperfunction or the inflammasome
  • release of IL1-beta

Genetics

• autosomal dominant
• associates with a defect in cryopyrin (CIAS1, NLRP3)

Clinical manifestations

• recurrent rash
• fever/chills
• arthralgias
• fatigue
• deafness
• mental retardation
• visual impairment
• joint deformities
• bone deformities

Laboratory

• complete blood count (CBC): leukocytosis as high as 36,000/uL
• serum IL6 is elevated
• erythrocyte sedimentation rate is elevated
• serum amyloid A is elevated
• serum C-reactive protein is elevated

Management

• interleukin 1-beta inhibitor
  • rilonacept
  • canakinumab

More general terms

• autoinflammatory disease

More specific terms

• familial cold autoinflammatory syndrome (FCAS)
• Muckle-Wells syndrome (MWS)
• neonatal-onset multisystem inflammatory disease (NOMID); chronic infantile neurologic cutaneous articular syndrome