Familial cold inflammatory syndrome 1 L50.2

Last updated on: 02.05.2022

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Kile and Rusk (1940) first described familial cold urticaria. The proband in their family developed urticarial wheals, pain and swelling of the joints, chills, and fever after cold exposure. Witherspoon et al (1948) also described familial urticaria after cold exposure.

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"Cold-induced autoinflammatory syndrome, familial form 1, also called FCAS1, is a hereditary autoinflammatory syndrome caused by a heterozygous mutation in the NLRP3 gene (1q44).

Clinical features
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FCAS1 is clinically characterized by recurrent episodes (with repeated exposure) of urticarial exanthema associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. After decades of progression, complicating renal amyloidosis may develop in rare cases (Hoffman et al. 2000).

Differential diagnosis
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Acquired cold urticaria: In FACS1, the duration of the episodes are significantly longer than in acquired cold urticaria. The lesions in FACS1 are erythematous rather than urticarial and are accompanied by fever, chills, arthralgias, and stiffness of the joints. Leukocytosis is often present. Leukocytosis is absent in the acquired form (Zip et al. 1993).

Muckle-Wells syndrome: By analyzing 5 families with familial cold urticaria, Hoffman et al. (2000) identified a linkage to 1q44. The authors suggested that familial cold urticaria and Muckle-Wells syndrome are allelic disorders.

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Overlapping syndromes also caused by a mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome(CINCA, CAPS3; 607115), which has earlier onset and a more severe phenotype.

Based on genetic evidence and phenotypic similarity to hereditary periodic fever syndromes (e.g., Familial Mediterranean Fever/ 249100), Hoffman et al (2001) proposed the name "familial cold autoinflammatory syndrome/'familial cold autoinflammatory syndrome " for the condition previously referred to as"familial cold urticaria."

Case report(s)
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Doeglas (1973) reported a large kindred with 10 affected individuals. One patient developed leukocytosis after the onset of exanthema.

Ormerod et al (1993) studied 8 of 20 affected members of a 46-member family. Urticaria usually did not appear until early adulthood.

Zip et al (1993) reported a large and extensively affected family. They found reports of 10 pedigrees, 7 from the United States and one each from Holland, France, and South Africa. In their own family, the disease was passed through 6 generations and consequently through 8 generations. The onset of the disease was in infancy. The onset of urticarial symptoms occurred half an hour to 6 hours after exposure to cold.


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Last updated on: 02.05.2022