Setting up TRAPS

Ann Med. 2012 Mar;44(2):109-18. doi: 10.3109/07853890.2010.548399. Epub 2011 Feb 1.

Abstract

Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by heterozygous mutations in the TNFRSF1A gene encoding for the TNF receptor 1 (TNFR1). TRAPS is a multi-faceted and heterogeneous disease which commonly manifests as recurrent episodes of high fever accompanied by abdominal pain, pleurisy, migratory rash, and myalgia. Disease attacks occur spontaneously or may be elicited by minor triggers. Because of a vigorous and sustained acute-phase response it may be complicated by systemic AA amyloidosis. Therapeutically interleukin-1 blockade seems even more promising than TNF blockade. Studies on the pathogenesis of TRAPS have shown TNFα-dependent cellular signalling to be defective, an enigmatic finding considering the hyperinflammatory phenotype of the disease. Several studies indicate that most mutated receptors never reach the cell surface but are misfolded and trapped in the endoplasmic reticulum, where they may elicit an intracellular inflammatory response, and thus lead to constitutional expression of proinflammatory cytokines. The aim of this review is to describe the current understanding of the pathogenesis of TRAPS by integrating recent clinical and laboratory data.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antirheumatic Agents / therapeutic use
  • Fever
  • Hereditary Autoinflammatory Diseases / drug therapy
  • Hereditary Autoinflammatory Diseases / etiology*
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use
  • Interleukin-1 / metabolism*
  • Mutation
  • Receptors, Tumor Necrosis Factor, Type I / genetics
  • Receptors, Tumor Necrosis Factor, Type I / metabolism*

Substances

  • Antirheumatic Agents
  • Interleukin 1 Receptor Antagonist Protein
  • Interleukin-1
  • Receptors, Tumor Necrosis Factor, Type I

Supplementary concepts

  • Periodic fever, familial, autosomal dominant