TNF receptor associated periodic syndrome explained

TNF receptor associated periodic syndrome
Synonyms:Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome
Field:Immunology
Symptoms:Vertigo, pericarditis
Causes:Mutations in the TNFRSF1A gene[1]
Diagnosis:Blood test, Genetic test
Treatment:Corticosteroids, NSAIDS

TNF receptor associated periodic syndrome (TRAPS[2]) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes.[2] [3]

Symptoms and signs

TNF receptor associated periodic syndrome presents with the following signs and symptoms:[4]

Cause

TNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition.[6] Its cytogenetic location is at 12p13.31.[7]

Mechanism

The main source of TNF (tumor necrosis factor) are cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in initiation of inflammation.[8]

Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[9] the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown. Impaired shedding of the TNF receptor is one of the possible defects, most mutations affect the extracellular domain of the receptor, some also the cleavage site.

Diagnosis

The diagnosis of TRAPS may show an increased IgD level in a possibly affected individual, other methods to ascertain a definite finding is via the following:[10] [11]

Treatment

In terms of treatment for TNF receptor associated periodic syndrome, corticosteroids can be administered for the reduction of the severity of this condition, NSAIDS may be used for fever.[4]

Research

Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[12]

See also

Further reading

External links

Notes and References

  1. Web site: Reference. Genetics Home. TRAPS. Genetics Home Reference. 3 January 2018. en. 3 January 2018. https://web.archive.org/web/20180103193552/https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome#genes. live.
  2. TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder . November 2006. 10.1007/s10067-005-0198-6 . 16447098 . 25 . 6 . Clinical Rheumatology . 773–777. Rezaei . Nima . 41808394.
  3. Web site: Autoinflammatory Diseases. Liaison. Janet Austin, Office of Communications and Public. www.niams.nih.gov. en. 22 June 2017. 21 April 2017. 27 June 2017. https://web.archive.org/web/20170627185417/https://www.niams.nih.gov/Health_Info/Autoinflammatory/default.asp. live.
  4. Web site: Tumor necrosis factor receptor-associated periodic syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 22 June 2017. 24 January 2017. https://web.archive.org/web/20170124131648/https://rarediseases.info.nih.gov/diseases/8457/tumor-necrosis-factor-receptor-associated-periodic-syndrome. dead.
  5. Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Silva NM, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S . Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review . Rheumatology (Oxford) . 60 . 12 . 5775–5784 . December 2021 . 33715002 . 10.1093/rheumatology/keab252 .
  6. Web site: Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome. RESERVED. INSERM US14 – ALL RIGHTS. www.orpha.net. en. 22 June 2017. 28 May 2018. https://web.archive.org/web/20180528052007/https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=32960. live.
  7. Web site: OMIM Gene Map – Chromosome: 12. omim.org. 22 June 2017. en-us. 26 October 2023. https://web.archive.org/web/20231026083741/https://omim.org/geneMap/12/46?start=-3&limit=10&highlight=46. live.
  8. Wajant. H.. Pfizenmaier. K.. Scheurich. P.. 2003. Tumor necrosis factor signaling. Cell Death & Differentiation. en. 10. 1. 45–65. 10.1038/sj.cdd.4401189. 12655295. 1350-9047. free.
  9. Web site: TNFRSF1A TNF receptor superfamily member 1A [Homo sapiens (human)] – Gene – NCBI]. www.ncbi.nlm.nih.gov. 22 June 2017. 23 January 2019. https://web.archive.org/web/20190123020311/https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=7132. live.
  10. Web site: TNF receptor-associated periodic fever syndrome (TRAPS) – Conditions – GTR – NCBI. www.ncbi.nlm.nih.gov. en. 22 June 2017. 6 January 2018. https://web.archive.org/web/20180106203244/https://www.ncbi.nlm.nih.gov/gtr/conditions/C1275126/. live.
  11. Book: Kelley and Firestein's Textbook of Rheumatology E-Book. Firestein. Gary S.. Budd. Ralph. Gabriel. Sherine E.. McInnes. Iain B.. O'Dell. James R.. 21 June 2016. Elsevier Health Sciences. 1676. 9780323414944. en. 22 June 2017. 26 October 2023. https://web.archive.org/web/20231026083750/https://books.google.com/books?id=kBZ6DAAAQBAJ&pg=PA1684-IA3#v=onepage&q&f=false. live.
  12. Church LD, Churchman SM, Hawkins PN, McDermott MF . Jun 2006 . Hereditary auto-inflammatory disorders and biologics . Springer Semin Immunopathol . 27 . 4. 494–508 . 10.1007/s00281-006-0015-6 . 16738958 . 16876568 .

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