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TRAPS syndrome

Orpha number ORPHA32960
Synonym(s) Autosomal dominant periodic fever
Familial hibernian fever
TNF receptor 1 associated periodic syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • E85.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

TRAPS (Tumor-necrosis factor receptor type 1 (TNFR)-Associated Periodic Syndrome) is characterized by episodes of high-grade fever with chills lasting 2-3 weeks associated with diffuse abdominal pain, nausea and vomiting, appendicitis-like bowel obstruction, pseudocellulitis, and localized myalgia of the trunk or limbs. Onset occurs during infancy or childhood. AA Amyloidosis is the main complication of TRAPS and occurs in 25% of cases. Mutations in the TNFRSF1A gene encoding TNFR1, which is known to be involved in the inflammatory response through nuclear factor KB activation, have been shown to underlie this condition. The mode of transmission is autosomal dominant. There is a soluble form of the receptor that is derived from the membrane formed by proteolysis. The physiologic role of the soluble form is not completely understood, but it could have an antagonistic role on the inflammatory pathway that involves trapping TNF-alpha. In contrast to the response to other inflammatory or infectious diseases, the level of the soluble TNFRSF1A gene product does not increase during the inflammatory attacks occurring in TRAPS patients. The presence of an acute-phase reaction contrasting with a normal or decreased soluble TNFRSF1A product serum level seems to be a constant finding in patients with TRAPS. Thus, measuring the level of soluble TNFRSF1A product during attacks could become a step in the diagnosis of recurrent fever of unknown origin.

Expert reviewer(s)

  • Dr Catherine DODE

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Detailed information

Summary information
Review article
  • FR (2008,pdf)
Guidance for genetic testing
  • EN (2012,pdf)
Article for general public
  • FR (2012)
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