NLRP12-associated Autoinflammatory Disease (NLRP12-AID), NLRP12-Associated Periodic Fever Syndrome – aka Familial Cold Autoinflammatory Syndrome 2 (FCAS2), or Guadeloupe Periodic Fever

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Acronym:
NLRP12-AID, (aka FCAS2)

SAID group:
NLRP12-associated Autoinflammatory Disease, (Monarch-1)

Gene:
NLRP12

Inheritance:
Autosomal dominant. Spontaneous mutations, some familial groups. [29] [30]

Ethnicity:
Unknown. Cases in Guadeloupe, US, Martinique, France, Italy, and Armenia. [38] [39] [75]

Frequency:
Unknown, but rare

Timing of symptoms:
1-3, to up to 7-15 days of fevers 39–40°C, rash and pain. Onset after exposure to cold or cooling temperatures. [38] [39]

Age of onset:
Neonatal/early infancy. Rash, fevers, symptoms may be present at birth. [38] [39]

Skin cutaneous:
Present during flares: Cold-induced urticaria-like or malar rash noted in some patients. [39] Some with apthous ulcers. [38] [39] Ice cube test is negative.

Neurologic:
Fevers 39–40°C myalgia, headaches with flares. Sensorineural hearing loss. Other neurological symptoms are not noted. [31]

Auditory:
Many have increased sensorineural hearing loss. [38] [39]

Ophthalamic:
Not noted. [38] [39]

Cardiopulmonary:
Not noted. [38] [39]

Abdominal:
Some patients have abdominal pain with flares. [39]

Lymphatic:
Some patients with lymphadenopathy. [39]

Joints bones muscles cartilage:
Myalgia, arthralgia, fatigue and malaise with flares. Permanent bone or joint damage not noted. [39]

Vasculitis:
Not noted. [38] [39]

Amyloidosis:
Not noted. [39]

Abnormal labs:
Elevated CRP may be noted during flares. But some patients do not have elevated CRP with flares. [39]

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