title: Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.
abstract: OBJECTIVE
  To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS).
  
  
  METHODS
  We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test.
  
  
  RESULTS
  The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic, cutaneous, articular syndrome, and 3 with unclassified CAPS. The median age was 35 years (range 0-78 years) at the time of the study, 1 year (range 0-41 years) at symptom onset, and 23 years (range 0-58 years) at diagnosis. The disease was sporadic in 17% of the patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with the presence and absence of articular symptoms at onset, respectively. During followup, 86% of the patients had musculoskeletal symptoms, 88% had arthralgia, and 58% had arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of the patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely obtained. 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.
authors.affiliation: Morvan University Hospital, Brest, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Houx
authors.affiliation: Nord-de-France University and Claude-Huriez University Hospital, Lille, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Hachulla
authors.affiliation: Kremlin Bicêtre University Hospital, Le Kremlin Bicêtre, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Kone-Paut
authors.affiliation: Necker-Enfants Malades University Hospital and Paris Descartes University, Paris, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Quartier
authors.affiliation: Arnaud de Villeneuve University Hospital, Montpellier, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
authors.affiliation: Yves le Foll Hospital, Saint-Brieuc, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Guennoc
authors.affiliation: Tenon University Hospital, AP-HP, and Paris VI Pierre et Marie Curie University, Paris, France.
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
authors.affiliation: Hôtel Dieu University Hospital, Nantes, France.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Hamidou
authors.affiliation: Necker-Enfants Malades University Hospital, AP-HP, and INSERM U768 Laboratory, Paris, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Neven
authors.affiliation: Hôtel Dieu University Hospital, Nantes, France.
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Berthelot
authors.affiliation: Rouen University Hospital, Rouen, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Lequerré
authors.affiliation: Pellegrin-Enfants University Hospital, Bordeaux, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Pillet
authors.affiliation: University Hospital, Nancy, France.
authors.forename: Irène
authors.initials: I
authors.lastname: Lemelle
authors.affiliation: Hautepierre University Hospital, Strasbourg, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Fischbach
authors.affiliation: Women-Mothers-Children University Hospital, Lyon, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Duquesne
authors.affiliation: Montpellier University Hospital, Montpellier, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Le Blay
authors.affiliation: Hotel Dieu Hospital, Paris, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Le Jeunne
authors.affiliation: Jean Verdier University Hospital, AP-HP, Paris XIII University, Paris, France.
authors.forename: Jérome
authors.initials: J
authors.lastname: Stirnemann
authors.affiliation: Dupuytren University Hospital, Limoges, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Bonnet
authors.affiliation: Reims University Hospital, Reims, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
authors.affiliation: Rennes University Hospital, Rennes, France.
authors.forename: Lilian
authors.initials: L
authors.lastname: Alix
authors.affiliation: Nord University Hospital, Saint-Etienne, France.
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
authors.affiliation: Saint Chamond, France.
authors.forename: François
authors.initials: F
authors.lastname: Garcier
authors.affiliation: Reims University Hospital, Reims, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Bedane
authors.affiliation: North University Hospital, AP-HM, Marseille, France.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Jurquet
authors.affiliation: Saint André Hospital, and Bordeaux University Hospital, Bordeaux, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Duffau
authors.affiliation: North University Hospital, Amiens, France.
authors.forename: Amar
authors.initials: A
authors.lastname: Smail
authors.affiliation: Tenon University Hospital, AP-HP, Paris, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Frances
authors.affiliation: Pellegrin-Enfants University Hospital, Bordeaux, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Grall-Lerosey
authors.affiliation: Saint Etienne University Hospital, Saint-Etienne, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Cathebras
authors.affiliation: Nîmes University Hospital, Nîmes, France.
authors.forename: Tu Anh
authors.initials: TA
authors.lastname: Tran
authors.affiliation: Claude Huriez University Hospital, Lille, France.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Morell-Dubois
authors.affiliation: Toulouse University Hospital, Toulouse, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Pagnier
authors.affiliation: University Hospital, Nancy, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Richez
authors.affiliation: Cochin Institute and University Hospital, AP-HP, Paris Descartes University, Paris, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
authors.affiliation: La Cavale Blanche University Hospital, Brest and EA2216 Brittany University (UBO), Brest, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Devauchelle-Pensec
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018771:Arthralgia / Q000150:complications / Q000503:physiopathology*; D001168:Arthritis / Q000150:complications / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D056587:Cryopyrin-Associated Periodic Syndromes / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D016208:Databases, Factual; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009141:Musculoskeletal System / Q000503:physiopathology*; D009154:Mutation; D063806:Myalgia / Q000150:complications / Q000503:physiopathology*; D010641:Phenotype; D055815:Young Adult