Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis.

Abstract

BACKGROUND:

We report two cases of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in patients in whom systemic juvenile idiopathic arthritis (JIA) had initially been diagnosed or suspected. One patient, given a diagnosis of systemic JIA, was a 10-year-old boy who had presented with recurrent episodes of spike-fever, skin rash, arthritis, and myalgia. The other patient was his 7-year-old sister, who presented with similar symptoms and was suspected of having systemic JIA.

METHODS:

Serum levels of soluble tumor necrosis factor receptor super family 1A (TNFRSF1A), TNF-alpha, Interleukin (IL) -6, and C-reactive protein (CRP) were measured in two siblings and JIA patients. In addition, DNA sequencing of the TNFRSF1A gene in two siblings was also performed.

RESULTS:

A detailed family history showed that their mother had an episode of recurrent fever, arthritis, and myalgia with an increased serum CRP after the delivery of a daughter. Both siblings had serum levels of soluble TNFRSF1A that were below the normal reference range, and that did not reach a level corresponding to that of systemic JIA. On TNFRSF1A gene analysis, a single missense mutation resulting in C30Y was found in both siblings.

CONCLUSIONS:

Based on the clinical features and the TNFRSF1A mutation, both siblings were given a diagnosis of TRAPS. The serum levels of soluble TNFRSF1A, measured along with the CRP level, may be a useful screening marker for differentiating TRAPS from systemic JIA.

• Authors: Akira Manki, Ryuta Nishikomori, Mami Nakata-Hizume, Taiji Kunitomi, Syuji Takei, Tomoko Urakami, Tsuneo Morishima
• Journal: Allergology international : official journal of the Japanese Society of Allergology (Allergol Int) Vol. 55 Issue 3 Pg. 337-41 (Sep 2006) ISSN: 1323-8930 [Print] England
• PMID: 17075277 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptors, Tumor Necrosis Factor
• C-Reactive Protein

Topics

• Arthritis, Juvenile (etiology, genetics, metabolism, pathology)
• C-Reactive Protein (metabolism)
• Child
• Diagnosis, Differential
• Familial Mediterranean Fever (blood, diagnosis, immunology)
• Female
• Humans
• Male
• Pedigree
• Receptors, Tumor Necrosis Factor (blood, genetics)
• Syndrome