Fiche publication
Date publication
août 2015
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GAILLARD Dominique
Tous les auteurs :
Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerre T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Le Rosey-Grall M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V
Lien Pubmed
Résumé
OBJECTIVES: To determine the type and frequency of musculoskeletal symptoms at onset and during follow-up of cryopyrin-associated periodic syndromes (CAPS). METHODS: We retrospectively recorded the articular and muscular symptoms of patients with CAPS managed in French hospitals. Data were described as frequencies or median (range) and score groups were compared using the chi-square test, Fisher exact test, and Mann-Whitney test. RESULTS: 133 patients (33 children) were included, 20 with familial cold-induced auto-inflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic cutaneous and articular syndrome, and 3 with unclassified CAPS. Median age was 35 (range 0-78) years at the time of the study, 1 (0-41) years at symptom onset, and 23 (0-58) years at diagnosis. The disease was sporadic in 17% of patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with presence and absence of articular symptoms at onset, respectively. During follow-up, 89% of patients had musculoskeletal symptoms; 88% had arthralgia and 58% arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely performed. Except for bone deformities, osteoarticular symptoms occurred at similar frequencies in the different CAPS phenotypes. CONCLUSIONS: Joint manifestations were frequent in all CAPS phenotypes. Bone deformities were rare. Musculoskeletal manifestations varied within given families but tended to worsen over time. This article is protected by copyright. All rights reserved.
Référence
Arthritis Rheumatol. 2015 Aug 5
