Identifying, Assessing, and Treating Hypophosphatasia (HPP)

Hypophosphatasia (HPP) is a lifelong, rare, sometimes fatal, metabolic bone disease, caused by loss of function mutations in the alkaline phosphatase, liver/bone/kidney (ALPL) gene.  The resulting ALP enzyme deficiency leads to inorganic pyrophosphate (PPi) causing defective calcification of bones.  Signs and symptoms vary widely and can appear from before birth to adulthood. Because this disorder is genetic, a diagnosis should raise the suspicion of HPP in family members.

HPP disease experts address the importance of early manifestations, including premature loss of baby teeth, muscle weakness and bone deformity, when to perform specific laboratory and confirmatory tests, and review the spectrum of disease progression.

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