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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:

http://www.clevelandclinicmeded.com/online/monograph/autoinflammatory/cryopyrin.asp
http://www.capscommunity.com/caps_fact_caps_md.html
https://www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_Conditions/Cryopyrin-Associated_Autoinflammatory_Syndromes_%28CAPS%29_%28Juvenile%29/
www.nomidalliance.org/downloads/finalCAPSbrochure_web.pdf

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.

Read more at:
Said Support.Org
Cleveland Clinic: Periodic Fever Syndromes

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Nuggets of Wisdom

Yes, there is such a thing as having an allergic type reaction to temperatures. This is defined as a physical urticaria. Other physical urticarias include Solar, Aquagenic, Pressure, Vibration and Exercise.

Most reactions are pseudo-allergic. By definition, an allergy involves inhaling or consuming an allergen. Physical urticarias have no known allergen. Despite the terminology and medical definitions, systemic reactions can be life threatening.

Cold has an arbitrary definition based on an individual feeling. For a person with a cold urticaria, cold can be defined as any temperature cooler than their own body temperature.

You do not have to be cold to have a reaction to the cold; contact with cold can trigger a reaction.

You can have an allergic type reaction to both cold and heat simultaneously.

Most reactions considered anaphylactic are really anaphylactoid by definition.

Moving to a warmer climate as a treatment for Cold Urticaria is a myth. Warmer climates present their own issues for those with Cold Urticaria.

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