Familial Cold Autoinflammatory Syndrome (NLRP3-AID-mild)

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Acronym:
FCAS (NLRP3-AID-mild)

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

Gene:
NLRP3

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

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

Frequency:
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.

Neurologic:
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]

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

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

Cardiopulmonary:
Not noted. [1]

Abdominal:
Uncommon. [1]

Lymphatic:
Not noted. [1]

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

Vasculitis:
Not noted. [1]

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

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

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