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

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.

• Authors: Carlos D Rosé, 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 Thomée, Sebastiaan Vastert, Nico Wulffraat, Juan I Arostegui, Kevin P Foley, John Bertin, Carine H Wouters
• Journal: Rheumatology (Oxford, England) (Rheumatology (Oxford)) Vol. 54 Issue 6 Pg. 1008-16 (Jun 2015) ISSN: 1462-0332 [Electronic] England
• PMID: 25416713 (Publication Type: Journal Article, Multicenter Study, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: © The Author 2014. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: [email protected].

Chemical References

• NOD2 protein, human
• Nod2 Signaling Adaptor Protein

Topics

• Adolescent
• Adult
• Arthritis (diagnostic imaging, drug therapy, genetics, physiopathology)
• Child
• Child, Preschool
• Cranial Nerve Diseases (diagnostic imaging, drug therapy, genetics, physiopathology)
• Cross-Sectional Studies
• Eye Diseases (drug therapy, genetics, physiopathology)
• Female
• Humans
• Infant
• Male
• Middle Aged
• Mutation, Missense
• Nod2 Signaling Adaptor Protein (genetics)
• Prospective Studies
• Radiography
• Sarcoidosis
• Skin Diseases (drug therapy, genetics, physiopathology)
• Synovitis (diagnostic imaging, drug therapy, genetics, physiopathology)
• Treatment Outcome
• Uveitis (diagnostic imaging, drug therapy, genetics, physiopathology)
• Young Adult