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]

Search Keywords:
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Resources:

  • NIH-WRNMMC 2nd Symposium on Autoinflammatory & Immunedysregulatory Diseases Registration is open for this free symposium August 22-23, 2019!

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  • Genetic Testing Our blog post and downloadable pdf of US genetic testing panels for autoinflammatory diseases.
  • saidsupport.org Our blog with the latest news,& helpful information for thriving with an autoinflammatory diseases.

  • Healthier Ever After Our book/program to help kids with injectable medications.

    Find periodic fever syndrome panels, which test for FCAS2 and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).

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