[A Dutch family with the hereditary periodic fever or tumour necrosis factor receptor-associated periodic syndrome (TRAPS)].
A 9-month-old girl was referred to the paediatrician because of fever of unknown origin. Since the age of 4 years she had recurrent attacks of muscle, joint and abdominal pain, in addition to periodic fever. Her sister and her mother had similar symptoms. The tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) was suspected and confirmed by DNA analysis. Several members of the extended family were carriers of the same mutation. In patients with recurrent unexplained periods offever in combination with myalgia, arthralgia and abdominal pain, and in whom these symptoms also occur in members of the family, TRAPS should be considered as the cause. Glucocorticosteroids and etanercept, a TNF-receptor antagonist, may be effective in the treatment of attacks. Early recognition of this syndrome is important because of the risk of developing amyloidosis.
Chang Pan Huo
N M N J
NM
VU Medisch Centrum, Amsterdam. nchangpanhuo@gmail.com
Dankert-Roelse
J E
JE
Kwee
M L
ML
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics
D018124:Receptors, Tumor Necrosis Factor; D047888:Receptors, Tumor Necrosis Factor, Type I