Hyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti-Interleukin-1 Treatments

Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes involved in phosphate homeostasis and characterized by high serum phosphate concentration and occurrence of ectopic calcifications. Management of the disease includes lowering of phosphate concentration and, when clinically necessary, debulking surgery of calcifications. In addition, high inflammatory disease flares can occur. Our case is about a patient with GALNT3 mutation and several localizations of refractory calcinosis. Assuming HFTC acts like an auto-inflammatory syndrome, we report the effect of anti-interleukine-1 therapies on the evolution of the disease. Anakinra (100 mg, then 200 mg subcutaneous daily) and canakinumab (300 mg every 4 weeks) were sequentially given to the patient. Anti-IL-1 therapy was effective in controlling inflammatory flares; however, it did not prevent extension of calcinosis. © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.