Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever

Arch Intern Med. 2001 Nov 12;161(20):2491-3. doi: 10.1001/archinte.161.20.2491.

Abstract

We describe 2 Dutch patients with recurrent fever attacks undiagnosed for more than 40 years. The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor-associated periodic syndrome. This syndrome is an autosomal dominant disorder characterized by recurring episodes of fever, arthralgia, and skin lesions that is caused by mutations in the 55-kd TNFRSF1A gene. This finding has facilitated treatment for TNF receptor-associated periodic syndrome because blocking of TNF signaling seems to alleviate the symptoms. Use of a short course of recombinant p75TNFR:Fc fusion protein (etanercept) induced prolonged remission in one patient.

Publication types

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

MeSH terms

  • Anti-Inflammatory Agents, Non-Steroidal / immunology
  • Anti-Inflammatory Agents, Non-Steroidal / therapeutic use
  • Antigens, CD / drug effects
  • Antigens, CD / genetics*
  • Body Temperature / drug effects
  • C-Reactive Protein / drug effects
  • C-Reactive Protein / metabolism
  • DNA Mutational Analysis / methods*
  • Diagnosis, Differential
  • Etanercept
  • Familial Mediterranean Fever / blood
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / therapy
  • Female
  • Genes, Dominant / genetics
  • Genetic Testing
  • Genotype
  • Humans
  • Immunoglobulin G / immunology
  • Immunoglobulin G / therapeutic use
  • Immunosuppressive Agents / immunology
  • Immunosuppressive Agents / therapeutic use
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pedigree
  • Receptors, Tumor Necrosis Factor / antagonists & inhibitors
  • Receptors, Tumor Necrosis Factor / drug effects
  • Receptors, Tumor Necrosis Factor / genetics*
  • Receptors, Tumor Necrosis Factor / immunology
  • Receptors, Tumor Necrosis Factor / therapeutic use
  • Receptors, Tumor Necrosis Factor, Type I
  • Recurrence
  • Remission Induction / methods
  • Treatment Outcome

Substances

  • Anti-Inflammatory Agents, Non-Steroidal
  • Antigens, CD
  • Immunoglobulin G
  • Immunosuppressive Agents
  • Receptors, Tumor Necrosis Factor
  • Receptors, Tumor Necrosis Factor, Type I
  • C-Reactive Protein
  • Etanercept