CAPS Syndrome (FCAS, MWS, NOMID / CINCA) 4/5 (2)

Last updated: 5 / 12 / 20
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CAPS with rash, fever, red eye and muscle pain almost every afternoon: Lachmann HJ, Arthritis Res Ter, 2009. Open

Cryopyrin (cryopyrin) associated periodic syndromes (CAPS)

Three diseases with similar clinical features. It is considered among the interleukin-1-associated, auto-inflammatory periodic fever diseases. In general, FCAS is least complicated, MWS somewhat more and NOMID / CINKA most severe (please read more below)

Familial cold autoinflammatory syndrome (FCAS)

Develops during the first year of life

  • Symptoms:
    • Cold from air conditioning or climate regularly causes systemic inflammatory reaction
      • Fever
      • Cold urticaria (approx. 7 hours after cold exposure)
      • Conjunctival redness (in eyes)
    • Significant joint pain
    • Leukocytosis (white blood cells) rises to 30.000 (after about 10 hours)
    • Episodes progress gradually after 24 hours

Muckle-Wells syndrome (MWS)

Symptoms like at FCAS (see above) + following

  • Intermittent (fluctuating) fever
  • Headache
  • Urticaria (rash)
  • Arthralgia or arthritis
  • Progressive (increasing) hearing loss
  • Eye infection (uveitt)
CAPS syndrome

CAPS (Yu JR, 2011). Open. Department of Dermatology, University of California, San Francisco, Divisadero Street, San Francisco, CA

Neonatal Onset Multisystem Inflammatory Disorder (NOMID) = CINCA Syndrome (Chronic Infantile Neutrophilic Cutaneous Articucular Syndrome)

  • Chronic meningitis (meningitis, not bacterial)
  • paralysis
  • Cartilage and skeletal deformities
  • Large spleen
  • From birth a serious condition. Symptoms like MWS + the following:

Criteria for diagnosis

Criteria have been created for the diagnosis of several specialist groups

Diagnostic Criteria (Kuemmerle-Deschner JB 2017)

  • High CRP (required for diagnosis)

Plus at least 2 of 6 by:

  • Urticaria-like rash
  • Coldness or stress have triggered episodes
  • Sensory hearing loss
  • Musculoskeletal symptoms (pain or swelling in joints or muscular pain)
  • Chronic aseptic meningitis (not bacteria or viruses)
  • Skeletal abnormalities

Other suggested criteria for diagnosis and classification (Federci, S, PRINTO / Eurofever 2015)

Occurrence                                  Scores

  • Urticarial rash 25
  • Neurosensory hearing loss 25
  • Conjunctivitis 10
  • Absence of exudative pharyngitis 25
  • Absence of abdominal pain 15

TOTAL points at least 52

Sensitivity: 70%. Specificity: 95%

Classification criteria Eurofever / PRINO 2019 (Gattorno M, 2019)

Genetic showing NLRP3 genotype and least en of the following:

  • Urticarial rash
  • Red eye (conjunctivitis, episcleritis or uveitis)
  • Neurosensory hearing loss

OR

Absence of genetically showing the NLRP3 genotype and at least two of the following:

  • Urticarial rash
  • Red eye (conjunctivitis, episcleritis or uveitis)
  • Neurosensory hearing loss

Literature

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)

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