[TRAPS syndrome, a rare cause of fever of unknown origin: case report and review of the literature].
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and pain. TRAPS is caused by mutations of the TNFRSF1A gene localized at 12p13. The gene encodes extracellular region of the p55 TNF-alpha receptor, resulting in impaired cleavage and down-regulation of the membrane expressed form of the receptor, a diminished shedding of potentially antagonistic soluble form of the receptor and, as a consequence, an unbalanced TNF-alpha action. Most affected patients are from northern Europe. Fever, sterile peritonitis, pleural pain, arthralgia, myalgia, skin rash, and/or conjunctivitis occur during the syndrome episodes; some patients also develop systemic amyloidosis, with some differences among patients. An acute-phase response occurs during the episodes. We describe a case of a 23-year-old Moldavian woman, living in Italy presenting recurrent fever episodes with abdominal pain and skin rash. A biopsy showed small vessel vasculitis. The genetic analysis showed a TNFRSF1A gene (R92Q) mutation. In this paper we report also a literature review on this rare disease.
Benucci
Maurizio
M
Sezione di Reumatologia, Nuovo Ospedale San Giovanni di Dio di Firenze. maubenucci@tiscali.it
Nenci
Gabriele
G
Taccetti
Gianni
G
Rosso
Aurelio
A
Cappelletti
Carlo
C
D000328:Adult; D010505:Familial Mediterranean Fever / Q000150:complications*; D005260:Female; D005335:Fever of Unknown Origin / Q000209:etiology*; D006801:Humans; D018124:Receptors, Tumor Necrosis Factor
D018124:Receptors, Tumor Necrosis Factor