Tumor necrosis factor receptor-associated periodic syndrome

From IDWiki

Background

  • A periodic fever syndrome caused by autoimmunity
  • Autosomal dominant with incomplete penetrance
  • Rare, described in all ethnic groups
  • Usually presents in childhood, though 10% of cases are in those over age 30 years

Clinical Manifestations

  • Fever over 38 degrees over months to years in the absence of infection
  • Typically occur every five to six weeks, and last five days to 2 weeks or longer
  • Also:

Diagnosis

  • Presence of a confirmatory TNFRSF1A genotype and at least 1 among the following:
    • Duration of episodes ≥7 days
    • Myalgia
    • Migratory rash
    • Periorbital edema
    • Relatives affected
  • OR
  • Presence of a not confirmatory TNFRSF1A genotype and at least 2 among the following:
    • Duration of episodes ≥7 days
    • Myalgia
    • Migratory rash
    • Periorbital edema
    • Relatives affected