TNF receptor-associated periodic syndrome (TRAPS): a new cause of joint destruction?

Joint Bone Spine. 2009 Oct;76(5):567-9. doi: 10.1016/j.jbspin.2009.08.002. Epub 2009 Sep 30.

Abstract

TNF receptor-associated periodic syndrome (TRAPS) is a highly polymorphic autoinflammatory syndrome related to mutations in the TNFRSF1A gene encoding the type 1 TNF receptor. Arthralgia and nonerosive synovitis are among the most common manifestations. We report the case of a 73-year-old woman who presented with chronic erosive joint disease that progressed by flare-ups. Moderate nonspecific abdominal and cutaneous abnormalities were noted, suggesting TRAPS. This diagnosis was confirmed when genetic tests identified the R92Q mutation in the TNFRSF1A gene. Although glucocorticoid therapy was effective in alleviating the symptoms, combination therapy with methotrexate and etanercept neither decreased the frequency of the flare-ups nor slowed the pace of joint destruction. Treatment with anakinra is being considered. To our knowledge, this is the first reported case of joint destruction related to TRAPS. In patients with refractory inflammatory joint disease, the presence of extraarticular manifestations, however mundane, should suggest TRAPS.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Ankle Joint / physiopathology
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / physiopathology
  • Female
  • Humans
  • Inflammation / etiology
  • Inflammation / genetics
  • Joint Diseases / etiology*
  • Joint Diseases / genetics*
  • Joint Diseases / pathology
  • Mutation*
  • Polymorphism, Genetic
  • Receptors, Tumor Necrosis Factor, Type I / genetics*
  • Wrist Joint / physiopathology

Substances

  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human