Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial cold autoinflammatory syndrome 1

Familial cold autoinflammatory syndrome 1 (FCAS1) is an autosomal dominant disorder caused by mutations of the NLRP3 gene. It is characterized by recurrent episodes of skin rash with arthralgias, myalgias, fever and chills. Typically those attacks occur after exposure to cold.

Management

As with all cryopyrin-associated periodic syndromes, interleukin-1 antagonism is effective in both management of acute inflammatory attacks and prevention of late-onset complications.

Symptoms

Inflammation
In Familial cold autoinflammatory syndrome 1 inflammation develops after exposure to cold.

Systematic

Familiäres kälteinduziertes autoinflammatorisches Syndrom
Familial cold autoinflammatory syndrome 1
NLRP3
Familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 4

References:

1.

Hoffman HM et al. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

[^]
2.

Vlagopoulos T et al. (1975) Familial cold urticaria.

[^]
3.

Soter NA et al. (1976) Cold urticaria: release into the circulation of histamine and eosinophil chemotactic factor of anaphylaxis during cold challenge.

[^]
4.

None (1979) An 'allergy' to cold.

[^]
5.

Wasserman SI et al. (1977) Cold urticaria. Recognition and characterization of a neutrophil chemotactic factor which appears in serum during experimental cold challenge.

[^]
6.

Doeglas HM et al. (1974) Familial cold urticaria. Clinical findings.

[^]
7.

None (1973) Familial cold urticaria.

[^]
8.

Doeglas HM et al. (1974) A kindred with familial cold urticaria: linkage analysis.

[^]
9.

Derbes VJ et al. (1972) Familial cold urticaria.

[^]
10.

Tindall JP et al. (1969) Familial cold urticaria. A generalized reaction involving leukocytosis.

[^]
11.

Kaplan AP et al. (1981) Idiopathic cold urticaria: in vitro demonstration of histamine release upon challenge of skin biopsies.

[^]
12.

None (1981) Exploiting the cold-urticaria model.

[^]
13.

Zip CM et al. (1993) Familial cold urticaria.

[^]
14.

Ormerod AD et al. (1993) Familial cold urticaria. Investigation of a family and response to stanozolol.

[^]
15.

Hoffman HM et al. (2000) Identification of a locus on chromosome 1q44 for familial cold urticaria.

[^]
16.

WITHERSPOON FG et al. (1948) Familial urticaria due to cold.

[^]
17.

Orphanet article

Orphanet ID 47045 [^]
18.

OMIM.ORG article

Omim 120100 [^]
19.

Wikipedia article

Wikipedia EN (Cold_urticaria) [^]
Update: May 7, 2019