Disease presentation

CAPS encompasses the three historically described diseases:

• FCAS (Familial Cold Autoinflammatory Syndrome): clinically mild end of the spectrum; symptoms are triggered by cold exposure
• MWS (Muckle-Wells Syndrome): intermediate severity; symptoms appear more frequently and last longer
• NOMID/CINCA (Neonatal-Onset Multisystem Inflammatory Disease/ Chronic Infantile Neurologic Cutaneous and Articular): most severe end of the spectrum; systemic and organ inflammation is constant and complications (e.g. amyloidosis) are not uncommon

Genetic grounds

The disease exhibits an autosomal dominant inheritance (i.e., receiving the gene from only one parent is enough to develop the disease). The involved mutated gene is NLRP3/CIAS1 coding for an inflammation protein called the cryopyrin.

Main clinical symptoms

Recurrent fever

Urticary-like cutaneaous lesions

Joint pain

Biological signs

Therapy

• Non-steroidal anti-inflammatory drugs (FCAS/MWS)
• Corticosteroids (FCAS/MWS)
• Anti-IL-1 (e.g. Anakinra, Canakinumab) (NOMID/CINCA)

*Cryopyrin-Associated Autoinflammatory Syndrome