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.

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.

journal_name

Clin Rheumatol

journal_title

Clinical rheumatology

authors

Chen Y,Huang X,Zheng S,Zhu Z,Yang W,Liu J

doi

10.1007/s10067-018-4023-4

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

1433-1438

issue

5

eissn

0770-3198

issn

1434-9949

pii

10.1007/s10067-018-4023-4

journal_volume

37

pub_type

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