Epidemiological Studies of Specified Rare and Intractable Disease

TNF Receptor-Associated Periodic Syndrome (TRAPS)
  • Naoyasu Ueda
  • Takahiko HoriuchiEmail author
Part of the Current Topics in Environmental Health and Preventive Medicine book series (CTEHPM)


Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a representative of autoinflammatory diseases. We conducted a nationwide survey for patients with TNFRSF1A variants in Japan. We obtained clinical and genetic features of 51 patients from 33 independent families. The most common variant was T61I (appearing in 49% of patients), and it was identified in 7 of 363 healthy controls. The common clinical features of Japanese patients were fever of >38 °C (100% of patients), arthralgia (59%), and rash (55%). The prevalence of abdominal pain (36%), myalgia (43%), and amyloidosis (0%) was significantly lower in Japanese patients than in Caucasian patients. Patients with TNFRSF1A variants are very rare in Japan, as in other countries, but there are a number of clinical and genetic differences between Japanese and Caucasian patients.


Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) TNFRSF1A Japan Japanese T61I 


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of Internal MedicineMiyazaki Prefectural Miyazaki HospitalMiyazakiJapan
  2. 2.Department of Internal MedicineKyushu University Beppu HospitalBeppuJapan

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