Familial cold urticaria: Difference between revisions

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#redirect [[Cryopyrin-associated periodic syndrome]]
{{Infobox Disease |
  Name          = Familial cold urticaria |
  Image          = |
  Caption        = |
  DiseasesDB    = |
  ICD10          = {{ICD10|L|50|2|l|50}} ([[ILDS]] L50.220) |
  ICD9          = |
  ICDO          = |
  OMIM          = 120100 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = D056587 |
}}
{{SI}}
{{CMG}}
==Overview==
'''Familial cold urticaria''' (also properly known as '''familial cold autoinflammatory syndrome''', '''FCAS''') is an [[autosomal dominant]] condition characterized by [[rash]], [[conjunctivitis]], [[fever]]/[[chills]] and [[arthralgia]]s<ref>{{cite web|last=Tunca, Ozdogan|first=Mehmet, Huri|title=Molecular and Genetic Characteristics of Hereditary Autoinflammatory|url=http://www.benthamscience.com/cdtia/sample/cdtia4-1/0013L.pdf|work=Molecular and Genetic Characteristics of Hereditary Autoinflammatory|publisher=Betham Science|accessdate=12 April 2011}}</ref> elicited by exposure to cold - sometimes temperatures below 22°C (72°F).<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref><ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=267–8 |isbn=1-4160-2999-0 |oclc= |doi=}}</ref>
 
It has been mapped to [[CIAS1]]<ref name="pmid11687797">{{cite journal |author=Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD |title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome |journal=Nat. Genet. |volume=29 |issue=3 |pages=301–5 |year=2001 |month=November |pmid=11687797 |doi=10.1038/ng756}}</ref> 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.<ref>{{cite web|last=Home Reference|first=Genetics|title=Familial cold autoinflammatory syndrome|url=http://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome|work=Familial cold autoinflammatory syndrome|publisher=U.S. National Library of Medicine|accessdate=12 April 2011}}</ref>
 
FCAS is one of the [[cryopyrin-associated periodic syndrome]]s (CAPS) caused by mutations in the [[CIAS1]]/NALP3 (aka NLRP3) [[gene]] at location 1q44.<ref name="CAPS">{{cite web| last = CAPS | first = Community| title = Familial Cold Auto-inflammatory Syndrome (FCAS): Fact Sheet| publisher = Regeneron Pharmaceuticals| date = 2008-01-01| url = http://www.capscommunity.com/caps_fact_fcas_md.html| accessdate =2010-02-01}}</ref><ref>{{cite web|last=HGNC|first=HUGO|title=Gene Name Database|url=http://www.genenames.org/cgi-bin/quick_search.pl?search=CIAS1&type=contains&num=20&submit=submit&.cgifields=type|work=Gene Name Database|publisher=Wellcome Foundation}}</ref><ref>{{cite web|last=Protein Data Bank (PDB)|first=RSCB|title=1q44|url=http://www.pdb.org/pdb/explore/remediatedSequence.do?structureId=1Q44|work=Crystal Structure of an Arabidopsis Thaliana Putative Steroid Sulphotransferase|publisher=RCSB|accessdate=12 April 2011}}</ref>. The disease was described in [[The Lancet]] Volume 364<ref>{{cite web|last=Hoffman H.M. et al|first=Vol 364|url=http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(04)17401-1/abstract|work=Lancet Vol 364|title=Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist|publisher=The Lancet}}</ref> by Hoffman H.M. <ref>{{cite web|last=Hoffman|first=Harold|title=Associate Professor of Pediatrics and Medicine, UC San Diego|url=http://raidivision.ucsd.edu/Default.aspx?tabid=65|work=The prevention of cold-associated acute inflammation in cold auto-inflammatory syndrome by interleukin-1 receptor antagonist|publisher=The Lancet vol 364}}</ref> 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".<ref>{{cite journal|doi=10.1185/03007990802081543|pmid=18423104|year=2008|last1=Stych|first1=B|last2=Dobrovolny|first2=D|title=Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives.|volume=24|issue=6|pages=1577–82|journal=Curr Med Res Opin (Tarrytown, NY, USA : 2008)}}</ref>
 
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]].<ref name="Kineret FCAS">{{cite journal| last = Ross JB | first = et al| title = Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up| publisher = | date = 2010-02-01| pmid = 18258152| last2 = Finlayson| first2 = LA| last3 = Klotz| first3 = PJ| last4 = Langley| first4 = RG| last5 = Gaudet| first5 = R| last6 = Thompson| first6 = K| last7 = Churchman| first7 = SM| last8 = McDermott| first8 = MF| last9 = Hawkins| first9 = PN| volume = 12| issue = 1| pages = 8–16| journal = Journal of cutaneous medicine and surgery}}</ref><ref name="Kineret FCAS Rheuma">{{cite web| last = Samy K Metyas | first = Hal M Hoffman| title = Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease.| publisher = Journal of Rheumatology| date = 2008-02-01| url = http://www.jrheum.org/content/33/10/2085.abstract| accessdate =2010-02-01}}</ref> The [[monoclonal antibody]] [[canakinumab]] (Ilaris) is also used.<ref>{{cite journal|doi=10.1358/dot.2009.45.10.1436882|pmid=20069137|year=2009|last1=Walsh|first1=GM|title=Canakinumab for the treatment of cryopyrin-associated periodic syndromes|volume=45|issue=10|pages=731–5|journal=Drugs of today (Barcelona, Spain : 1998)}}</ref>
 
== See also ==
* [[Cold urticaria]]
* [[Erythema]]
* [[Diascopy]]
* [[Skin lesion]]
* [[Amyloidosis]]
* [[List of cutaneous conditions]]
 
== References ==
{{reflist|2}}
 
{{Urticaria and erythema}}
 
[[Category:Autoinflammatory syndromes]]
[[Category:Urticaria and angioedema]]
 
 
{{Cutaneous-condition-stub}}

Latest revision as of 13:40, 30 July 2019