Adult-Onset Hypophosphatasia: Before and After Treatment with Asfotase ALFA

Abstract

To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa. Clinical and laboratory data are presented. This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP) levels and elevated vitamin B6 levels. Treatment with asfotase alfa resolved her chronic bony pain symptoms and quadrupled her daily pedometer step count. Furthermore, whole body scans before and after treatment showed less focal uptake overall, suggesting fracture healing after enzyme replacement therapy. Improvement in patient reported symptoms, daily pedometer count, and whole body scans was noted after treatment of adult-onset hypophosphatasia with asfotase alfa enzyme replacement therapy. The significance of increased ALP levels after treatment is currently unknown.