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Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes
Carlos D Rosé1, Steven Pans1, Ingele Casteels1
1Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA, Department of Radiology, Department of Ophthalmology, Catholic University of Leuven (KU Leuven), Leuven, Belgium, Unidad de Reumatologia Pediatrica, Universidad de Barcelona, Barcelona, Spain, Unité d'Immunologie, Hématologie et Rhumatologie Pediatrique, Hospital Necker-Enfants Malades, Inserm U 768, Imagine Foundation, Paris, Rheumatology Practice, Neuilly-sur-Seine, France, Dipartimento di Pediatria, Universita degli Studi di Firenze, Firenze, Italy, Seccion Reumatologia, Universidad de Buenos Aires, Buenos Aires, Argentina, Fundación Biomédica Galicia Sur Hospital Meixoeiro, Hospital do Meixoeiro, Vigo, Spain, Service de Médecine Interne, Hôpital Claude Huriez, Lille, France, Department of Rheumatology, University of Zagreb, Zagreb, Croatia, Department of Paediatrics, Jaslok Hospital, Mumbai, India, Interdisciplinary Uveitis Center, Universitat Klinikum Heidelberg, Heidelberg, Germany, Unidad de Reumatologia Pediatrica, Hospital La Paz, Madrid, Servicio de Rheumatologia, Hospital de Gran Canarias Dr Negrin, Las Palmas, Spain, Instituto de Puericultura e Pediatria Martagao Gesteira (IPPMG), Universidad Federal do Rio de Janeiro, Rio de Janeiro, Brazil, Pédiatrie - Néphrologie, Médecine Interne et Hypertension, Hôpital des Enfants, Toulouse, France, Servicio de Immunologia/Reumatologia, University of Buenos Aires, Buenos Aires, Argentina, Pediatric Clinic, Centre Hospitalier de Luxemburg, Luxembourg, Luxembourg, Division of Pediatrics, Department of Pediatric Immunology and Rheumatology, UMC Utrecht, Utrecht, The Netherlands, Department of Immunology-CDB, Hospital Clinic Barcelona, Spain, Pattern Recognition Receptor Discovery Performance Unit, Immuno-inflammation Therapeutic Area, GlaxoSmithKline, Collegeville, Pennsylvania, USA and Department of Pediatric Rheumatology, Catholic University of Leuven (KU Leuven), Leuven, Belgium.
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.
