Muckle-Wells Syndrome (NLRP3-AID-moderate)

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Acronym:
MWS (NLRP3-AID-moderate)

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

Gene:
NLRP3

Inheritance:
Autosomal dominant. Spontaneous mutations, and some family groups with MWS spanning generations. [1]

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

Frequency:
1:1 million, but it may be more frequent. Some large family groups. [5] Frequency of CAPS in France is 1:360,000. [55]

Timing of symptoms:
Often lasts 2-3 days. Random onset–flares of fever and symptoms are often triggered by cold or cooling temperature. [1]

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

Skin cutaneous:
Urticaria-like rash with increased neutrophils at the eccrine coils. Rash and flares can be cold-induced, or from unknown triggers. [4] Most have a daily rash that increases with flares. [1] A few have apthous ulcers. Negative ice cube test.

Neurologic:
Some have headaches, fatigue with fever and flares. It is uncommon to have many other central nervous system symptoms. [1] A few patients have a MWS/NOMID crossover of symptoms.

Auditory:
Many have increased sensorineural hearing loss, starting in adolescence. [1]

Ophthalamic:
Conjunctivitis (non-infectious) during flares,[1] or corneal haze. [26] MWS/NOMID crossover patients may have more eye involvement.

Cardiopulmonary:
Rare. [1]

Abdominal:
Some have abdominal pain with flares or other gastrointestinal issues. [1]

Lymphatic:
Rarely noted. [1]

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

Vasculitis:
Not noted. [1]

Amyloidosis:
Elevated serum amyloid (SAA). >25 % with secondary amyloidosis. [1], [9]

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

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