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Clinical Rheumatology

, Volume 37, Issue 5, pp 1433–1438 | Cite as

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

  • Yanxia Chen
  • Xingqi Huang
  • Sujie Zheng
  • Zhongliang Zhu
  • Wei Yang
  • Jinlin Liu
Case Based Review
  • 169 Downloads

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.

Keywords

Arthralgia Chinese patients Recurrent fever TRAPS 

Notes

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).

Compliance with ethical standards

Disclosures

None.

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Copyright information

© International League of Associations for Rheumatology (ILAR) 2018

Authors and Affiliations

  • Yanxia Chen
    • 1
  • Xingqi Huang
    • 2
  • Sujie Zheng
    • 3
  • Zhongliang Zhu
    • 3
  • Wei Yang
    • 3
  • Jinlin Liu
    • 3
    • 4
  1. 1.Department of Rheumatology, Zhejiang Provincial People’s HospitalHangzhou Medical CollegeHangzhouChina
  2. 2.Department of Clinical LaboratoryJinhua Guangfu HospitalJinhuaChina
  3. 3.Department of Clinical Laboratory, Zhejiang Provincial People’s HospitalHangzhou Medical CollegeHangzhouChina
  4. 4.Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang ProvinceHangzhouChina

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