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Recurrent fever and arthralgia as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Chinese girl: a case report and review of the literature

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Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by recurrent episodes of inflammation with fever, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema. This condition is a rare autosomal dominant disease that is strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. This condition is believed to be more common in Western countries than in Asian countries, and the AA amyloidosis rate for European countries is estimated to be 10%. Herein, we report the case of a 14-year-old girl with recurrent fever and arthralgia with inflammatory marker elevation for 10 years. After extensive investigation of the infectious etiology with negative results and similar phenomenon observed within her family, the diagnosis of TRAPS was made based on next-generation sequencing, which revealed a T50M mutation; she was also sensitive to corticosteroids. Although none of our TRAPS patients developed AA amyloidosis, we suggest the continual monitoring of urinalysis results and serum amyloid A concentrations during long-term follow-up. Moreover, we also reviewed the related literature and found no Asian patients who had developed AA amyloidosis.

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Acknowledgements

Jinlin Liu was supported by the National Natural Science Foundation of China (No: 81502472), Zhejiang Provincial Natural Science Fund (No: LY18H200002), Zhejiang Provincial Health Bureau (No: 2018KY014), and Outstanding Youth Foundation of Zhejiang Provincial People’s Hospital (No: 2015 A level). Yanxia Chen was supported by the Zhejiang Provincial Health Bureau (No: 2018KY218).

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Authors and Affiliations

  1. Department of Rheumatology, Zhejiang Provincial People’s Hospital, Hangzhou Medical College, 158 Shangtang Road, Hangzhou, 310014, China

    Yanxia Chen

  2. Department of Clinical Laboratory, Jinhua Guangfu Hospital, 1296 North Huancheng Road, Jinhua, 321000, China

    Xingqi Huang

  3. Department of Clinical Laboratory, Zhejiang Provincial People’s Hospital, Hangzhou Medical College, 158 Shangtang Road, Hangzhou, 310014, China

    Sujie Zheng, Zhongliang Zhu, Wei Yang & Jinlin Liu

  4. Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province, Hangzhou, 310014, China

    Jinlin Liu

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  1. Yanxia Chen
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Correspondence to Jinlin Liu.

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Chen, Y., Huang, X., Zheng, S. et al. Recurrent fever and arthralgia as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Chinese girl: a case report and review of the literature. Clin Rheumatol 37, 1433–1438 (2018). https://doi.org/10.1007/s10067-018-4023-4

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  • DOI: https://doi.org/10.1007/s10067-018-4023-4

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