Tumor necrosis factor receptor-associated periodic syndrome

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:
  • Myalgias and limb pain, sometimes migratory (59 to 85%)
  • Abdominal symptoms (36 to 74%), including pain and vomiting (18%)
  • Rash (55 to 63%), which is single or multiple erythematous patches that may spread downward
  • Lymphadenopathy (25%)
  • Headache (20 to 25%)
  • Chest pain (14 to 25%)
  • Conjunctivitis (18 to 20%)
  • Periorbital edema (9 to 20%)
  • Pharyngitis, with or without aphthae (9 to 18%)
  • Monoarticular arthritis (13%)
  • Hepatomegaly and/or splenomegaly (5 to 10%)
  • Occasionally, recurrent pericarditis
  • Secondary AA amyloidosis (10 to 15%)

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