Familial cold urticaria
Familial cold urticaria (also properly known as familial cold autoinflammatory syndrome, FCAS) is an autosomal dominant condition characterized by rash, conjunctivitis, fever/chills and arthralgias[1] elicited by exposure to cold - sometimes temperatures below 22°C (72°F).[2][3]
It has been mapped to CIAS1[4] and is a slightly milder member of the disease family including Muckle–Wells syndrome and NOMID. It is rare and is estimated as having a prevalence of 1 per million people and mainly affects Americans and Europeans.[5]
FCAS is one of the cryopyrin-associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NALP3 (aka NLRP3) gene at location 1q44.[6][7][8]. The disease was described in The Lancet Volume 364[9] by Hoffman H.M. [10] et al.
The effect of FCAS on the quality of life of patients is far reaching. A survey of patients in the United States in 2008 found, "To cope with their underlying disease and to try to avoid symptomatic, painful, flares patients reported limiting their work, school, family, and social activities. Seventy-eight percent of survey participants described an impact of the disease on their work, including absenteeism and impaired job advancement; frequently they quit their job as a consequence of their disease".[11]
Treatment using anakinra (Kineret) has been shown effective for FCAS although this does mean daily injections of the immunosuppressant into an area such as the lower abdomen.[12][13] The monoclonal antibody canakinumab (Ilaris) is also used.[14]
See also
References
- ^ Tunca, Ozdogan, Mehmet, Huri. "Molecular and Genetic Characteristics of Hereditary Autoinflammatory". Molecular and Genetic Characteristics of Hereditary Autoinflammatory. Betham Science. http://www.benthamscience.com/cdtia/sample/cdtia4-1/0013L.pdf. Retrieved 12 April 2011.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 267–8. ISBN 1-4160-2999-0.
- ^ Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (November 2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome". Nat. Genet. 29 (3): 301–5. doi:10.1038/ng756. PMID 11687797.
- ^ Home Reference, Genetics. "Familial cold autoinflammatory syndrome". Familial cold autoinflammatory syndrome. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome. Retrieved 12 April 2011.
- ^ CAPS, Community (2008-01-01). "Familial Cold Auto-inflammatory Syndrome (FCAS): Fact Sheet". Regeneron Pharmaceuticals. http://www.capscommunity.com/caps_fact_fcas_md.html. Retrieved 2010-02-01.
- ^ HGNC, HUGO. "Gene Name Database". Gene Name Database. Wellcome Foundation. http://www.genenames.org/cgi-bin/quick_search.pl?search=CIAS1&type=contains&num=20&submit=submit&.cgifields=type.
- ^ Protein Data Bank (PDB), RSCB. "1q44". Crystal Structure of an Arabidopsis Thaliana Putative Steroid Sulphotransferase. RCSB. http://www.pdb.org/pdb/explore/remediatedSequence.do?structureId=1Q44. Retrieved 12 April 2011.
- ^ Hoffman H.M. et al, Vol 364. "Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist". Lancet Vol 364. The Lancet. http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(04)17401-1/abstract.
- ^ Hoffman, Harold. "Associate Professor of Pediatrics and Medicine, UC San Diego". The prevention of cold-associated acute inflammation in cold auto-inflammatory syndrome by interleukin-1 receptor antagonist. The Lancet vol 364. http://raidivision.ucsd.edu/Default.aspx?tabid=65.
- ^ Stych, B; Dobrovolny, D (2008). "Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives.". Curr Med Res Opin (Tarrytown, NY, USA : 2008) 24 (6): 1577–82. doi:10.1185/03007990802081543. PMID 18423104.
- ^ Ross JB, et al; Finlayson, LA; Klotz, PJ; Langley, RG; Gaudet, R; Thompson, K; Churchman, SM; McDermott, MF et al. (2010-02-01). "Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up". Journal of cutaneous medicine and surgery 12 (1): 8–16. PMID 18258152.
- ^ Samy K Metyas, Hal M Hoffman (2008-02-01). "Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease.". Journal of Rheumatology. http://www.jrheum.org/content/33/10/2085.abstract. Retrieved 2010-02-01.
- ^ Walsh, GM (2009). "Canakinumab for the treatment of cryopyrin-associated periodic syndromes". Drugs of today (Barcelona, Spain : 1998) 45 (10): 731–5. doi:10.1358/dot.2009.45.10.1436882. PMID 20069137.