A Case Presenting with the Clinical Characteristics of Tumor Necrosis Factor (TNF) Receptor-associated Periodic Syndrome (TRAPS) without <i>TNFRSF1A</i> Mutations Successfully Treated with Tocilizumab

Tadashi Hosoya, Fumitaka Mizoguchi, Hisanori Hasegawa, Keiko Miura, Ryuji Koike, Tetsuo Kubota, Nobuyuki Miyasaka, Hitoshi Kohsaka

Internal Medicine · 2015 · 33 citations · 16 references

DOIFull text

Open access

Concepts

Abstract

A 30-year-old woman had suffered from recurrent and self-limiting fevers since childhood. Although she had no mutations in the exons or introns of the tumor necrosis factor (TNF) receptor superfamily member 1A gene, her clinical characteristics were consistent with those of TNF receptor-associated periodic syndrome (TRAPS). She did not respond to treatment with etanercept, although tocilizumab therapy was successful, subsequently ameliorating her symptoms and preventing further inflammatory attacks. Interleukin-6 blocking therapy should be considered as a new alternative treatment in patients with TRAPS who do not respond to etanercept.

References

16