Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases with the same genetic basis and overlapping symptomatology.
There are 3 subtypes of CAPS:
- Familial Cold Autoinflammatory Syndrome (FCAS)
- Muckle-Wells Syndrome (MWS)
- Neonatal-Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome)
CAPS are generally caused by autosomal-dominant mutations of the NLRP3 gene (formerly the CIAS1 [cold-induced autoinflammatory syndrome 1] gene). Cryopyrin is critical to the production of the inflammatory cytokine interleukin-1β (IL-1β). IL-1β can trigger an inflammatory response when it binds to inflammatory cells. Alterations in cryopyrin lead to IL-1β overproduction, resulting in an inflammatory response and the symptoms of CAPS.
NLRP3 mutations have been detected in only half of patients diagnosed with CAPS, suggesting that additional mutations may exist.
Link to external websites for further research:
Periodic Fever Syndromes
As a Syndrome, this is classified has including multiple diseases, it provides no diagnosis, but rather a classification of a group of diseases. The term refers to several unique autoinflammatory conditions that have similar symptoms, primarily a recurrent fever with no infectious basis accompanied by a range of other symptoms. The periodic fever syndromes include: The Cryopryin-Associated Periodic syndromes (CAPS): Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal-Onset Multisystem Inflammatory Disease (NOMID or CINCA) Familial Mediterranean Fever (FMF) Tumour Necrosis Factor (TNF)-Associated Periodic Syndrome (TRAPS) Mevalonate Kinase Deficiencies: Hyper-IgD with Periodic Fever Syndrome (HIDS), and Mevoalonate Aciduria (MA) Periodic Fever, Aphthous Stomatitis, Pharyngitis, & Cervical Adenitis (PFAPA syndrome) And several others. Click here to see a full list.