Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome

Clin Rheumatol. 2014 Sep;33(9):1197-207. doi: 10.1007/s10067-014-2722-z. Epub 2014 Jun 17.

Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. The pathophysiologic mechanism of TRAPS remains ambiguous and only partially explained. The onset age of the syndrome is variable and the clinical scenery is characterized by recurrent episodes of high-grade fever that typically lasts 1-3 weeks, associated with migrating myalgia, pseudocellulitis, diffuse abdominal pain, appendicitis-like findings, ocular inflammatory signs, and risk of long-term amyloidosis. Fever episodes are responsive to high-dose corticosteroids, but different classes of drugs have been reported to be ineffective. The use of etanercept is unable to control systemic inflammation, while interleukin-1 blockade has been shown as effective in the control of disease activity in many patients reported so far.

Publication types

  • Review

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use*
  • Age of Onset
  • Fever
  • Hereditary Autoinflammatory Diseases / diagnosis
  • Hereditary Autoinflammatory Diseases / drug therapy*
  • Hereditary Autoinflammatory Diseases / genetics
  • Humans
  • Mutation
  • Receptors, Tumor Necrosis Factor, Type I / genetics

Substances

  • Adrenal Cortex Hormones
  • Receptors, Tumor Necrosis Factor, Type I

Supplementary concepts

  • Periodic fever, familial, autosomal dominant