Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives

摘要: Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder characterized by fever episodes, arthralgia, myalgia, abdominal pain, serositis, and skin rash. TRAPS caused mutations in the gene encoding TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13. The identification of TNFRSF1A as genetic cause coincided with wider use biological agents medicine raised possibility that blocking could potentially represent primary therapeutic goal TRAPS, thus disclosing new treatment choices for this complex disease. Anti-TNF therapy has been based etanercept, a recombinant human TNFR (p75)-Fc fusion protein comprising two receptors linked IgG(1) Fc fragment. However decrease responsiveness to etanercept over time described, it may be due non-specific action TRAPS; its efficacy reflect 'generic' anti-inflammatory properties. Long-term adherence poor significant number patients need switch anti-interleukin (IL)-1β therapy. In fact, IL-1 receptor antagonist anakinra recently shown prevent disease relapses both short- long-term, induce prompt stable remission.