TNF receptor associated periodic syndrome

TNF receptor associated periodic syndrome
Synonyms Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome
TNF receptor associated periodic syndrome is acquired via autosomal dominant inheritance
Causes Mutations in the TNFRSF1A gene[1]
Diagnostic method Blood test, Genetic test[2][3]
Treatment Corticosteroids, NSAIDS [4]

TNF receptor associated periodic syndrome (TRAPS[5]) 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.[5][6]

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.[7] Its cytogenetic location is at 12p13.31.[8]

Mechanism

Macrophage

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.[9]

Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[10] 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:[2][3]

Treatment

Corticosteroid

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,[11]

See also

References

  1. ↑ Reference, Genetics Home. "TRAPS". Genetics Home Reference. Retrieved 3 January 2018.
  2. 1 2 "TNF receptor-associated periodic fever syndrome (TRAPS) - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-22.
  3. 1 2 Firestein, Gary S.; Budd, Ralph; Gabriel, Sherine E.; McInnes, Iain B.; O'Dell, James R. (2016-06-21). Kelley and Firestein's Textbook of Rheumatology E-Book. Elsevier Health Sciences. p. 1676. ISBN 9780323414944.
  4. 1 2 3 "Tumor necrosis factor receptor-associated periodic syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-06-22.
  5. ↑ Liaison, Janet Austin, Office of Communications and Public. "Autoinflammatory Diseases". www.niams.nih.gov. Retrieved 2017-06-22.
  6. ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome". www.orpha.net. Retrieved 2017-06-22.
  7. ↑ "OMIM Gene Map - Chromosome: 12". omim.org. Retrieved 22 June 2017.
  8. ↑ Wajant, H.; Pfizenmaier, K.; Scheurich, P. (2003). "Tumor necrosis factor signaling". Cell Death & Differentiation. 10 (1): 45–65. doi:10.1038/sj.cdd.4401189. ISSN 1350-9047.
  9. ↑ "TNFRSF1A TNF receptor superfamily member 1A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-22.
  10. ↑ Church LD, Churchman SM, Hawkins PN, McDermott MF (Jun 2006). "Hereditary auto-inflammatory disorders and biologics". Springer Semin Immunopathol. 27 (4): 494–508. doi:10.1007/s00281-006-0015-6. PMID 16738958. subscription needed

Further reading

  • Kimberley, Fiona C; Lobito, Adrian A; Siegel, Richard M; Screaton, Gavin R (2007). "Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome". Arthritis Research & Therapy. 9 (4): 217. doi:10.1186/ar2197. ISSN 1478-6354. PMC 2206363. PMID 17666110.
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