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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 [2]
- rilonacept
- canakinumab
Specific
familial cold autoinflammatory syndrome (FCAS)
Muckle-Wells syndrome (MWS)
neonatal-onset multisystem inflammatory disease (NOMID); chronic infantile neurologic cutaneous articular syndrome
General
hereditary periodic fever syndrome; periodic fevers; recurrent fever syndrome; familial autoinflammatory disease
References
- Cryopyrin Associated Periodic Syndromes (CAPS):
Physician Backgrounder
http://www.capscommunity.com/caps_fact_caps_md.html
- Medical Knowledge Self Assessment Program (MKSAP) 16, 18
American College of Physicians, Philadelphia 2012, 2018