TNF receptor-associated periodic syndrome (TRAPS): a new cause of joint destruction?
TNF receptor-associated periodic syndrome (TRAPS) is a highly polymorphic autoinflammatory syndrome related to mutations in the TNFRSF1A gene encoding the type 1 TNF receptor. Arthralgia and nonerosive synovitis are among the most common manifestations. We report the case of a 73-year-old woman who presented with chronic erosive joint disease that progressed by flare-ups. Moderate nonspecific abdominal and cutaneous abnormalities were noted, suggesting TRAPS. This diagnosis was confirmed when genetic tests identified the R92Q mutation in the TNFRSF1A gene. Although glucocorticoid therapy was effective in alleviating the symptoms, combination therapy with methotrexate and etanercept neither decreased the frequency of the flare-ups nor slowed the pace of joint destruction. Treatment with anakinra is being considered. To our knowledge, this is the first reported case of joint destruction related to TRAPS. In patients with refractory inflammatory joint disease, the presence of extraarticular manifestations, however mundane, should suggest TRAPS.
Schoindre
Yoland
Y
Service de Rhumatologie A, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014 Paris, France.
Feydy
Antoine
A
Giraudet-Lequintrec
Janine-Sophie
JS
Kahan
André
A
Allanore
Yannick
Y
D000368:Aged; D000843:Ankle Joint / Q000503:physiopathology; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007249:Inflammation / Q000209:etiology / Q000235:genetics; D007592:Joint Diseases / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011110:Polymorphism, Genetic; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D014955:Wrist Joint / Q000503:physiopathology
D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human