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:
- 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