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Volume 47, Number 6, December 2015

Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: A case report and review of the literature 

Yun-Ju Chen, Hsin-Hui Yu, Yao-Hsu Yang, Yu-Lung Lau, Wen-I Lee, Bor-Luen Chiang

Received: February 7, 2012    Revised: March 11, 2012    Accepted: June 21, 2012   


Corresponding author:

* Corresponding author. Department of Pediatrics, National Taiwan University Hospital, Number 7, Chung-Shan South Road, Taipei 100,
E-mail address: (B.-L. Chiang). 


Background and purpose: 

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. It is believed to be more common in Western countries than in Asian countries. Here, we present the case of a 14-year-old girl with periodic fever and abdominal pain with elevation of inflammatory markers for 2 years. After extensive work-up of infectious etiology with negative results, the diagnosis of TRAPS was made although no gene mutations were identified in the TNFRSF1A gene, MVK gene, and NALP3/CIAS1 gene. She had partial clinical response to corticosteroids and immunomodulatory agents. However, the treatment response to TNF-α inhibitor etanercept was dramatic. She has remained symptom free under regular weekly to biweekly etanercept treatment for 2 years. We also reviewed the related literature and summarized the data of 10 Asian cases of TRAPS. 


Key words:

Hereditary periodic fever, TNF-α inhibitor etanercept, Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)