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Familial cold autoinflammatory syndrome(FCAS)

MedGen UID:
137986
Concept ID:
C0343068
Disease or Syndrome
Synonyms: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL; Familial cold urticaria; Familial polymorphous cold eruption; FCAS
SNOMED CT: Familial cold urticaria (238687000); Familial cold autoinflammatory syndrome (238687000); FCU - familial cold urticaria (238687000); FCAS - familial cold autoinflammatory syndrome (238687000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: NLRP3, NLRP12, NLRC4, PLCG2
 
Monarch Initiative: MONDO:0018768
OMIM®: 120100
OMIM® Phenotypic series: PS120100
Orphanet: ORPHA47045

Definition

Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by 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 shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13; FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q23; and FCAS4 (616115), caused by mutation in the NLRC4 gene (606831) on chromosome 2p22. [from OMIM]

Professional guidelines

PubMed

Diaz VL, Gribbons KB, Yazdi-Nejad K, Kuemmerle-Deschner J, Wanderer AA, Broderick L, Hoffman HM
J Allergy Clin Immunol Pract 2023 Aug;11(8):2275-2285. Epub 2023 Jun 7 doi: 10.1016/j.jaip.2023.05.040. PMID: 37290539
Koné-Paut I, Galeotti C
Expert Rev Clin Immunol 2015;11(10):1083-92. Epub 2015 Aug 27 doi: 10.1586/1744666X.2015.1077702. PMID: 26312542
Kuemmerle-Deschner JB
Semin Immunopathol 2015 Jul;37(4):377-85. Epub 2015 May 12 doi: 10.1007/s00281-015-0491-7. PMID: 25963520

Recent clinical studies

Etiology

Vasse M, Reumaux H, Koné-Paut I, Quartier P, Hachulla E
Clin Exp Rheumatol 2023 Oct;41(10):2039-2043. Epub 2023 Mar 9 doi: 10.55563/clinexprheumatol/bfyb6o. PMID: 36912350
Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508Free PMC Article
Çakan M, Karadağ ŞG, Ayaz NA
Turk J Pediatr 2020;62(2):167-174. doi: 10.24953/turkjped.2020.02.001. PMID: 32419407
Marzano AV, Tavecchio S, Venturini M, Sala R, Calzavara-Pinton P, Gattorno M
G Ital Dermatol Venereol 2015 Feb;150(1):41-50. Epub 2015 Jan 14 PMID: 25586657
Miyamae T
Paediatr Drugs 2012 Apr 1;14(2):109-17. doi: 10.2165/11595040-000000000-00000. PMID: 22335455

Diagnosis

Demir F, Sözeri B
Clin Exp Rheumatol 2023 Oct;41(10):2115-2121. Epub 2023 Oct 9 doi: 10.55563/clinexprheumatol/kzggp3. PMID: 37877365
Diaz VL, Gribbons KB, Yazdi-Nejad K, Kuemmerle-Deschner J, Wanderer AA, Broderick L, Hoffman HM
J Allergy Clin Immunol Pract 2023 Aug;11(8):2275-2285. Epub 2023 Jun 7 doi: 10.1016/j.jaip.2023.05.040. PMID: 37290539
Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508Free PMC Article
Maltseva N, Borzova E, Fomina D, Bizjak M, Terhorst-Molawi D, Košnik M, Kulthanan K, Meshkova R, Thomsen SF, Maurer M; COLD-CE Steering Committee
Allergy 2021 Apr;76(4):1077-1094. Epub 2020 Dec 24 doi: 10.1111/all.14674. PMID: 33249577
Davis MDP, van der Hilst JCH
J Allergy Clin Immunol Pract 2018 Jul-Aug;6(4):1162-1170. Epub 2018 Jun 2 doi: 10.1016/j.jaip.2018.05.006. PMID: 29871797

Therapy

Demir F, Sözeri B
Clin Exp Rheumatol 2023 Oct;41(10):2115-2121. Epub 2023 Oct 9 doi: 10.55563/clinexprheumatol/kzggp3. PMID: 37877365
Maltseva N, Borzova E, Fomina D, Bizjak M, Terhorst-Molawi D, Košnik M, Kulthanan K, Meshkova R, Thomsen SF, Maurer M; COLD-CE Steering Committee
Allergy 2021 Apr;76(4):1077-1094. Epub 2020 Dec 24 doi: 10.1111/all.14674. PMID: 33249577
Brogan PA, Hofer M, Kuemmerle-Deschner JB, Koné-Paut I, Roesler J, Kallinich T, Horneff G, Calvo Penadés I, Sevilla-Perez B, Goffin L, Lauwerys BR, Lachmann HJ, Uziel Y, Wei X, Laxer RM
Arthritis Rheumatol 2019 Nov;71(11):1955-1963. Epub 2019 Sep 9 doi: 10.1002/art.41004. PMID: 31161734Free PMC Article
Landmann EC, Walker UA
Expert Rev Clin Pharmacol 2017 Aug;10(8):855-864. Epub 2017 Jun 20 doi: 10.1080/17512433.2017.1338946. PMID: 28586272
Miyamae T
Paediatr Drugs 2012 Apr 1;14(2):109-17. doi: 10.2165/11595040-000000000-00000. PMID: 22335455

Prognosis

Kostik MM, Suspitsin EN, Guseva MN, Levina AS, Kazantseva AY, Sokolenko AP, Imyanitov EN
Rheumatol Int 2018 May;38(5):887-893. Epub 2018 Mar 2 doi: 10.1007/s00296-018-4002-8. PMID: 29500522
Kuemmerle-Deschner JB
Semin Immunopathol 2015 Jul;37(4):377-85. Epub 2015 May 12 doi: 10.1007/s00281-015-0491-7. PMID: 25963520
Miyamae T
Paediatr Drugs 2012 Apr 1;14(2):109-17. doi: 10.2165/11595040-000000000-00000. PMID: 22335455
Ahmadi N, Brewer CC, Zalewski C, King KA, Butman JA, Plass N, Henderson C, Goldbach-Mansky R, Kim HJ
Otolaryngol Head Neck Surg 2011 Aug;145(2):295-302. doi: 10.1177/0194599811402296. PMID: 21493283Free PMC Article
Jesus AA, Oliveira JB, Hilário MO, Terreri MT, Fujihira E, Watase M, Carneiro-Sampaio M, Silva CA
J Pediatr (Rio J) 2010 Sep-Oct;86(5):353-66. doi: 10.2223/JPED.2015. PMID: 20938587

Clinical prediction guides

Vasse M, Reumaux H, Koné-Paut I, Quartier P, Hachulla E
Clin Exp Rheumatol 2023 Oct;41(10):2039-2043. Epub 2023 Mar 9 doi: 10.55563/clinexprheumatol/bfyb6o. PMID: 36912350
Çakan M, Karadağ ŞG, Ayaz NA
Turk J Pediatr 2020;62(2):167-174. doi: 10.24953/turkjped.2020.02.001. PMID: 32419407
Kostik MM, Suspitsin EN, Guseva MN, Levina AS, Kazantseva AY, Sokolenko AP, Imyanitov EN
Rheumatol Int 2018 May;38(5):887-893. Epub 2018 Mar 2 doi: 10.1007/s00296-018-4002-8. PMID: 29500522
Landmann EC, Walker UA
Expert Rev Clin Pharmacol 2017 Aug;10(8):855-864. Epub 2017 Jun 20 doi: 10.1080/17512433.2017.1338946. PMID: 28586272
Rosengren S, Mueller JL, Anderson JP, Niehaus BL, Misaghi A, Anderson S, Boyle DL, Hoffman HM
J Allergy Clin Immunol 2007 Apr;119(4):991-6. Epub 2007 Feb 22 doi: 10.1016/j.jaci.2006.12.649. PMID: 17320940Free PMC Article

Recent systematic reviews

Rodrigues F, Cuisset L, Cador-Rousseau B, Giurgea I, Neven B, Buob D, Quartier P, Hachulla E, Lequerré T, Cam G, Boursier G, Hervieu V, Grateau G, Georgin-Lavialle S
Rheumatology (Oxford) 2022 Nov 28;61(12):4827-4834. doi: 10.1093/rheumatology/keac145. PMID: 35262642

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