Skip to main content
Article thumbnail
Location of Repository

Blau syndrome : cross-sectional data from a multicentre study of clinical, radiological and functional outcomes

By Carlos D. Rose, Steven Pans, Ingele Casteels, Jordi Anton, Brigitte Bader-Meunier, Philippe Brissaud, Roland Cimaz, Graciella Espada, Jorge Fernandez-Martin, Eric Hachulla, Miroslav Harjacek, Raju Khubchandani, Friederike Mackensen, Rosa Merino, Antonio Naranjo, Sheila Oliveira-Knupp, Christine Pajot, Ricardo Russo, Caroline Thomee, SJ Vastert, Nico Wulffraat, Juan I. Arostegui, Kevin P. Foley, John Bertin and Carine H. Wouters

Abstract

Objective. To report baseline articular, functional and ocular findings of the first international prospective cohort study of Blau syndrome (BS). Methods. Three-year, multicentre, observational study on articular, functional (HAQ, Childhood HAQ and VAS global and pain), ophthalmological, therapeutic and radiological data in BS patients. Results. Baseline data on the first 31 recruited patients (12 females and 19 males) from 18 centres in 11 countries are presented. Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees. Median disease duration was 12.8 years (1.1-57). Arthritis, documented in all but one patient, was oligoarticular in 7, polyarticular in 23. The median active joint count was 21. Functional capacity was normal in 41%, mildly impaired in 31% and moderate-severe in 28% of patients. The most frequently involved joints at presentation were wrists, ankles, knees and PIPs. On radiographs, a symmetrical non-erosive arthropathy was shown. Previously unknown dysplastic bony changes were found in two-thirds of patients. Ocular disease was documented in 25 of 31 patients, with vitreous inflammation in 64% and moderate-severe visual loss in 33%. Expanded manifestations (visceral, vascular) beyond the classic clinical triad were seen in 52%. Conclusion. BS is associated with severe ocular and articular morbidity. Visceral involvement is common and may be life-threatening. Bone dysplastic changes may show diagnostic value and suggest a previously unknown role of NOD2 in bone morphogenesis. BS is resistant to current drugs, suggesting the need for novel targeted therapies

Topics: Blau syndrome, sarcoidosis, NOD2, uveitis, EARLY-ONSET SARCOIDOSIS, PEDIATRIC GRANULOMATOUS ARTHRITIS, JUVENILE IDIOPATHIC ARTHRITIS, CARD15 MUTATIONS, INTERNATIONAL REGISTRY, RHEUMATOID-ARTHRITIS, UVEITIS, DISEASE, CHILDHOOD, Journal Article, Multicenter Study, Observational Study, Research Support, Non-U.S. Gov't
Year: 2015
OAI identifier: oai:dspace.library.uu.nl:1874/332083
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • http://dspace.library.uu.nl:80... (external link)
  • Suggested articles


    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.