Tumor necrosis factor receptor-associated cycle syndrome: a case report and literature review

Abstract

Recurring episodes of fever characterize tumor necrosis factor receptor-associated periodic syndrome (TRAPS) which is autosomal dominant. The primary symptoms of patients with TRAPS include prolonged fever, abdominal pain, muscle pain, and skin rashes. The prevalence of TRAPS appeared higher in Western countries than in Asian countries. Herein, we present the case of a 13-year-old girl who experienced intermittent fever for 8 years, with episodes that occur every 2 years. The patient demonstrated periodic fever, headache, vomiting, rash, and elevated inflammatory marker levels during the disease course. A heterozygous C55Y mutation was identified via a direct DNA sequencing of her genomic DNA. This mutation is located in exon 4 of TNFRSF1A. Genetic studies of her sister and mother revealed that they possessed the C55Y heterozygous mutation without demonstrating any clinical signs, while the father did not. Further, we conducted a thorough assessment of the literature and compiled the information from the eight TRAPS case series.

A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome

“…Renal amyloidosis is the most serious long-term complication but is rare in pediatric patients ( Hodgson et al, 2014 ; Cody et al, 2021 ). Physical stress or emotion, mild infections, fatigue, hormonal changes, trauma and vaccinations can trigger the symptoms but the exact cause remains unknown ( Li et al, 2023 ). Laboratory features that are typical of TRAPS, during febrile episodes, include elevated acute phase reactants, leukocytosis and thrombocytosis ( Magnotti et al, 2013 ).…”

“…However significant variation in the age of onset is observed in patients with TRAPS, with reports of disease onset or diagnosis in adulthood ( Nakamura et al, 2009 ; Cantarini et al, 2014 ; Lopalco et al, 2015 ; Hernández-Rodríguez et al, 2016 ; Youngstein et al, 2018 ). There are limited reports of TRAPS in Chinese populations ( Stojanov et al, 2004 ; Zhao et al, 2020 ; Li et al, 2023 ), with only nine adult cases documented in China and a median age of onset of 3 years (range: 0.5–38.5). In this study, we reported a Chinese patient with a family history of recurrent fever and abdominal pain, and identified a rare mutation in TNFRSF1A .…”

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“…However significant variation in the age of onset is observed in patients with TRAPS, with reports of disease onset or diagnosis in adulthood (Nakamura et al, 2009;Cantarini et al, 2014;Lopalco et al, 2015;Hernández-Rodríguez et al, 2016;Youngstein et al, 2018). There are limited reports of TRAPS in Chinese populations (Stojanov et al, 2004;Zhao et al, 2020;Li et al, 2023), with only nine adult cases documented in China and a median age of onset of 3 years (range: 0.5-38.5). In this study, we reported a Chinese patient with a family history of recurrent fever and abdominal pain, and identified a rare mutation in TNFRSF1A.…”