HistoryThis section has been translated automatically.
Muckle and Wells, 1962
DefinitionThis section has been translated automatically.
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EtiopathogenesisThis section has been translated automatically.
Hereditary disease with autosomal dominant inheritance (mutation of the CIAS1 gene (cold-induced autoinflammatory syndrome 1 gene, NLRP3 gene) located on chromosome region 1q44, inherited with incomplete penetrance. The gene is expressed in leukocytes of peripheral blood and codes for cryopyrin. It has the same N-terminal protein domain as pyrin, whose alterations are the cause of Familial Mediterranean Fever.
Mutations in the genes NALP3/CIAS1/PYPAF1 are responsible for 2 other syndromes:
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Clinical featuresThis section has been translated automatically.
Clinical symptoms are:
- Chronic recurrent urticarial exanthema (rarely: urticarial vasculitis)
- Sensitivity to cold, especially in humid-cold weather and weather changes
- Fever attacks with joint and muscle pain (polyarthralgia) since childhood
- General feeling of weakness and discomfort
- Optional: Progressive sensorineural hearing loss
- Optional: renal amyloidosis.
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Alternative: Immunosuppressive therapy to prevent further amyloid deposition.
Alternative: Therapy trials are described with cyclophosphamide (e.g. endoxan) 100 mg/day in combination with methylprednisolone (e.g. Urbason) 40 mg/day (reduction according to clinic), with DADPS (e.g. Dapson Fatol) initial 100 mg/day and with colchicine (e.g. Colchicum dispersed).
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Case report(s)This section has been translated automatically.
History: Already since pre-school age the patient, who is now 45 years old, suffers from recurrent exanthema of the trunk and the lower extremities. Under NSAR she has a slight improvement. More significant clinical effects could be achieved with medium prednisolone doses.
First acute hearing loss at the age of 20. Recurrent arthritis mostly associated with fever, headache and urticarial exanthema. The relapse activity starts 3-4 times a year.
At the age of 30 years high frequency hearing loss was detected.
For 10 years the patient has been taking ibuprofen regularly, almost daily.
Reason for visitation: fever, fatigue and feeling ill, acute painful swelling of the left ankle joint, also of the base joints of the fingers. Simultaneous urticarial exanthema of the trunk and extremities with small spots. Face free.
Laboratory: BSG: 60/111, CRP 65mg/l, neutrophil leukocytosis, lymphopenia, erythrocyturia, discrete serum amyloid A elevation. Discrete ANA, ENA, C3,C4, RF. c-ANCA. p-ANCA.
Human genetic diagnosis: Detection of a mutation of the CIAS1 gene (cold-induced autoinflammatory syndrome 1 gene) located on chromosome region 1q44.
Therapy: IL-1 receptor antagonist (anakinra) at a dose of 100mg/day s.c.
LiteratureThis section has been translated automatically.
- Berthelot JM et al (1994) Autosomal dominant muckle-wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation familiy. At J Med gene 53: 72-74
- Black AK (2001) Unusual urticarias. J Dermatol 28: 632-634
- Gerbig AW et al (2001) Muckle-Wells syndrome? J Am Acad Dermatol 44: 875-876
- Granel B et al (2003) CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. Dermatology 206: 257-259
- Grassegger A et al (1991) Urticarial vasculitis as a syndrome of Muckle-Wells syndrome? Dermatologist 42: 116-119
- Hawkins PN et al (2003) Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 348: 2583-2584
- Muckle TJ, Wells MV (1962) Urticaria, deafness and amyloidosis: a new heredo-family syndrome. Quart J Med 31: 235-248
Incoming links (16)Aa-type amyloidosis; Amyloid-a; Anakinra; Canakinumab; Familial cold inflammatory syndrome 1; Familial cold urticaria; Mediterranean fever, familial; Newborns, skin changes; Nlrp; NLRP3 Gene; ... Show all
Outgoing links (17)Amyloid; Amyloidosis (overview); Amyloidosis systemic (overview); Anakinra; Cinca syndrome; Cold urticaria; Cyclophosphamide; Dadps; Familial cold urticaria; Fever syndromes, hereditary, periodic (overview); ... Show all
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