ABSTRACT
Hereditary periodic fevers are autoinflammatory disorders characterized by recurrent febrile episodes with serositis, synovitis and cutaneous inflammation, potentially leading to development of AA amyloidosis. The Tumor Necrosis Factor (TNF) receptor-associated periodic syndrome is a genetically distinct disorder mainly affecting people of Northern European origin. This dominantly inherited syndrome is caused by mutations in the TNFRSF1A gene, which codifies for the p55 subunit of the TNF receptor. Typical features include localized myalgia, periorbital edema, conjunctivitis and long duration of attacks, usually lasting more than one week. A TNFRSF1A mutation was identified in eight patients (17 percent) affected by apparently sporadic periodic fever syndrome. Diagnosis and treatment of hereditary periodic fever syndromes presently rely on genetic testing. Analysis of TNFRSF1A gene allowed to establish a proper diagnosis in 8 Italian patients with sporadic periodic fever and inflammatory attacks without significant family history for the disease.
