A Case Presenting with the Clinical Characteristics of Tumor Necrosis Factor (TNF) Receptor-associated Periodic Syndrome (TRAPS) without TNFRSF1A Mutations Successfully Treated with Tocilizumab

Intern Med. 2015;54(16):2069-72. doi: 10.2169/internalmedicine.54.3371. Epub 2015 Aug 15.

Abstract

A 30-year-old woman had suffered from recurrent and self-limiting fevers since childhood. Although she had no mutations in the exons or introns of the tumor necrosis factor (TNF) receptor superfamily member 1A gene, her clinical characteristics were consistent with those of TNF receptor-associated periodic syndrome (TRAPS). She did not respond to treatment with etanercept, although tocilizumab therapy was successful, subsequently ameliorating her symptoms and preventing further inflammatory attacks. Interleukin-6 blocking therapy should be considered as a new alternative treatment in patients with TRAPS who do not respond to etanercept.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antibodies, Monoclonal, Humanized / therapeutic use*
  • Antineoplastic Agents / therapeutic use*
  • Exons
  • Female
  • Fever / diagnosis
  • Fever / drug therapy*
  • Fever / genetics
  • Hereditary Autoinflammatory Diseases / diagnosis
  • Hereditary Autoinflammatory Diseases / drug therapy*
  • Hereditary Autoinflammatory Diseases / genetics
  • Humans
  • Interleukin-6 / antagonists & inhibitors*
  • Mutation
  • Receptors, Tumor Necrosis Factor, Type I / genetics
  • Tumor Necrosis Factor-alpha / antagonists & inhibitors*

Substances

  • Antibodies, Monoclonal, Humanized
  • Antineoplastic Agents
  • IL6 protein, human
  • Interleukin-6
  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human
  • Tumor Necrosis Factor-alpha
  • tocilizumab

Supplementary concepts

  • Periodic fever, familial, autosomal dominant