Vol.23 No.2

Review Article

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature

Authors

Masakazu Washio1 , Teruaki Nakano2 , Yasushi Kawaguchi3 , Kae Takagi3 , Chikako Kiyohara4 , Hiroshi Tsukamoto4 , Shoji Tokunaga5 , Takahiko Horiuchi4

  • St. Mary’s College, 422 Tsubukuhonmachi, Kurume, Fukuoka, 830-8558, Japan
  • St. Mary’s Hospital, Kurume, Fukuoka, Japan
  • Tokyo Women’s Medical University, Shinjuku-ku, Tokyo, Japan
  • Kyushu University Graduate School of Medical Sciences, Higashi-ku, Fukuoka, Japan
  • Kyushu University Hospital, Higashi-ku, Fukuoka, Japan
Received:

19 March 2012

Accepted:

31 July 2012

Published online:

24 August 2012

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Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of fever attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia. Some patients have severe abdominal pain leading to abdominal surgery. Most reported cases of TRAPS involve patients of European ancestry, but there have been nine reports of patients with TRAPS in Japan. Here, we review these nine case reports. Reported TNFRSF1A gene mutations in these nine index patients were C70S, T61I, C70G, C30Y, C30R, N101K, and N25D. Fever (100 %) was seen in all 23 cases. Most patients developed rash (erythema) (84.6 %) and arthralgia (73.3 %), and half suffered frommyalgia (54.5 %) and abdominal pain (50.0 %). Although one-half of the patients suffered from abdominal pain, none underwent surgery. In contrast, only a small percentage of patients suffered from chest pain (20.0 %), conjunctivitis (20.0 %), and headache (10.0 %). Almost all cases (95.7 %) concerned patients whose relatives suffered from periodic fever. These findings suggest that the clinical features of Japanese TRAPS patients may be milder than those of patients in Western countries.

Key words

TRAPS - Autoinflammatory disease - TNFRSF1A gene mutation - Japan