gms | German Medical Science

Introduction: Blau syndrome, a rare autosomal dominant granulomatous autoinflammatory disease resulting from mutations in NOD2/CARD15 gene, impacts 200 individuals globally. This syndrome marked by early onset is associated with a triad of noncaseating granulomatous uveitis, arthritis and granulomatous dermatitis. Despite typical organ involvement, sporadic engagement of large vessel vasculitis has been documented. Takayasu arteritis an idiopathic granulomatous vasculitis is very rare in childhood. Owing this rarity, diagnosing presents a formidable challenge. Delayed treatment regimens may affect patients' quality of life. In this context, we present two patients with NOD 2 mutation and concomitant Takayasu arteritis.

Results: The first patient initially diagnosed at the age of two with Systemic Juvenile Idiopathic Arthritis (sJIA) due to joint, skin and eye involvement presented concomitantly with frequent hypertensive crisis. Progressive manifestations prompted genetic testing, revealing a R334Q mutation in NOD2 gen associated with Blau syndrome. Hepatic involvement prompted the initiation of therapy with adalimumab. Disease exacerbations and persistent hypertension continued. MRI angiography revealed stenosis throughout the entire aorta, including abdominal aorta and renal arteries. Takayasu arteritis being diagnosed, therapy was switched to high-dose corticosteroid pulses and infliximab. Following these, the patient showed rapid improvement and significant decrease in inflammatory markers, permitting the dilatation of renal arteries.

The second patient was diagnosed at age of three with Hyper IgE syndrome and received an allogenic stem cell transplant by the age of nine. Further diagnosis revealed a S506PfsX11 NOD2/CARD15 variant of unknown significance. Due to new onset headaches, abdominal pain and pain in the lower extremities an MRI angiography was performed showing an involvement of cerebral arteries and abdominal aorta. Under therapy with tocilizumab and immunoglobulins additive to prednisolone he showed a progression in vascular involvement. Therefore, the therapy was switched to infliximab and steroids (including high-dose corticosteroid pulses). Under very slow steroid tapering no disease progress was noted.

Conclusion: Medium and large vessel arteritis is infrequently noted in individuals with NOD2 mutation. Evaluation of peripheral pulses and blood pressure assessments during check-ups may prove pivotal in the early detection of Blau syndrome-related arteritis. Early diagnosis can prevent severe complications.

Disclosures: No conflicts of interest.