Familial Cold Autoinflammatory Syndrome (NLRP3-AID-mild)

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SAID group:
Cryopyrin Associated Periodic Syndromes (CAPS) NLRP3-associated Autoinflammatory Diseases (NLRP3-AID)


Autosomal dominant. Many large family groups spanning generations. Some patients with spontaneous mutations. [1]

Affects all races, but many are of European descent. [1]

1:1 million, or more. In USA 300+ diagnosed – most cases are from large family groups. [2], [5] Frequency of CAPS in France is 1:360,000. [55]

Timing of symptoms:
12-24 hours, or longer. Onset of fever and flares is often 1-3 hours after exposure to cold or cooling temperatures. [1]

Age of onset:
Infancy, but a few present with symptoms later in childhood or adolescence. [1]

Skin cutaneous:
Cold-induced, urticaria-like rash with increased neutrophils at the eccrine coils. [4] Almost daily rash that increases with flares. [1] Ice cube test negative. A few with apthous ulcers.

Some have headaches and fatigue with fever after cold exposure. It is unknown if there are any other effects on the central nervous system (CNS) at this time. [1]

Some patients have mild hearing loss – not currently known if it‘s from CAPS inflammation. [1]

Conjunctivitis (non-infectious) during flares. [1]

Not noted. [1]

Uncommon. [1]

Not noted. [1]

Joints bones muscles cartilage:
Arthralgia, stiffness and swelling with flares. [1]

Not noted. [1]

Elevated serum amyloid (SAA). Secondary amyloidosis in some patients. [1], [9]

Abnormal labs:
High: ESR, CRP, SAA. Leukocytosis with flares. [1]

Search Keywords:
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Autoinflammatory Alliance image collection. Voluntarily supplied by patients. Image use restricted - contact karen@autoinflammatory.org


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    Find periodic fever syndrome panels, which test for CAPS and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).

    Our Autoinflammatory Alliance website FCAS page.

    Download or view our CAPS Guidebook in English, or choose "ES" at the top of the page to access the Spanish version.

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