Document Detail

TNF receptor-associated periodic syndrome (TRAPS): a new cause of joint destruction?
MedLine Citation:
PMID:  19796978     Owner:  NLM     Status:  MEDLINE    
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.
Yoland Schoindre; Antoine Feydy; Janine-Sophie Giraudet-Lequintrec; Andr?? Kahan; Yannick Allanore
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-09-30
Journal Detail:
Title:  Joint, bone, spine : revue du rhumatisme     Volume:  76     ISSN:  1778-7254     ISO Abbreviation:  Joint Bone Spine     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-10-26     Completed Date:  2010-01-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100938016     Medline TA:  Joint Bone Spine     Country:  France    
Other Details:
Languages:  eng     Pagination:  567-9     Citation Subset:  IM    
Service de Rhumatologie A, H??pital Cochin, AP-HP, Universit?? Paris-Descartes, 75014 Paris, France.
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MeSH Terms
Ankle Joint / physiopathology
Familial Mediterranean Fever / genetics*,  physiopathology
Inflammation / etiology,  genetics
Joint Diseases / etiology*,  genetics*,  pathology
Polymorphism, Genetic
Receptors, Tumor Necrosis Factor, Type I / genetics*
Wrist Joint / physiopathology
Reg. No./Substance:
0/Receptors, Tumor Necrosis Factor, Type I; 0/TNFRSF1A protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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