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CAPS (Cryopyrin-Associated Periodic Syndromes)

Spectrum of autoinflammatory disorders caused by NLRP3 gene mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is CAPS (Cryopyrin-Associated Periodic Syndromes)?

CAPS is a spectrum of three autoinflammatory disorders (FCAS, Muckle-Wells syndrome and NOMID/CINCA) caused by gain-of-function mutations in the NLRP3 gene.

Constitutive NLRP3 inflammasome activation drives uncontrolled IL-1 beta secretion and systemic inflammation.

Disease severity varies widely; without IL-1 blockade, severe forms cause sensorineural deafness, AA amyloidosis and chronic aseptic meningitis.

Symptoms

Cold-induced urticaria-like rash (especially FCAS)
Recurrent fever and arthralgia
Sensorineural hearing loss (Muckle-Wells, NOMID)
Chronic aseptic meningitis and headaches (NOMID)
Conjunctivitis, uveitis and optic disc oedema
Periarticular joint hypertrophy and bone overgrowth (NOMID)

Risk Factors

Heterozygous NLRP3 gene mutations (autosomal dominant)
De novo mutations common in NOMID/CINCA
Cold exposure triggers FCAS attacks
Family history of urticaria, deafness and amyloidosis

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Cold-induced urticarial rash with fever
  • Progressive sensorineural hearing loss in childhood
  • Chronic headaches with raised intracranial pressure
  • Joint deformities or bone overgrowth in early childhood

Treatment Methods

01
Genetic confirmation by NLRP3 sequencing (mosaicism testing if negative)
02
Anakinra (daily IL-1 receptor antagonist) for rapid control
03
Canakinumab (subcutaneous anti-IL-1 beta every eight weeks) — preferred long-term therapy
04
Rilonacept (weekly IL-1 trap) as alternative biologic
05
Audiology, ophthalmology and brain MRI surveillance
06
Early IL-1 blockade prevents deafness, amyloidosis and CNS damage

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.