Management of Blau syndrome: review and proposal of a treatment algorithm

Blau syndrome is a rare genetic granulomatosis affecting children. It could be responsible for vision-threatening complications and articular deformation. Due to the rarity of this disease, there are no standardized guidelines for its management. This work aimed to provide an updated overview of the different therapeutic options for Blau syndrome. We conducted research in the PubMed database for the different treatments used in Blau syndrome patients, and we proposed a therapeutic algorithm for disease management. High doses of corticosteroids are considered as a bridging therapy in Blau syndrome. Methotrexate should be initiated if the patient has articular or ocular involvement. An anti-tumor necrosis factor α should be added for patients with uveitis or residual arthritis. If the patient remains symptomatic, a switch to another anti-tumor necrosis factor α is the best option. In non-responders to the first- and second-line biotherapies, a switch to an anti-interleukin 1, an anti-interleukin 6, or tofacitinib is necessary. Conclusion : This article suggested an algorithm for the treatment of Blau syndrome. Other studies are necessary to confirm the efficacy of these treatments. What is Known: • Blau syndrome is a rare but severe granulomatosis that could be responsible for vision-threatening complications and articular deformation. • Blau syndrome seems to be refractory to treatments. What is New: • High doses of corticosteroids are usually insufficient and should be considered only as a bridging therapy. • Blau syndrome could be considered as a poor factor for uveitis, thus, an anti-tumor necrosis factor α should be initiated for patients with uveitis or with residual arthritis.