Fast Five Quiz: Adult Hypophosphatasia Management

Eric T. Rush, MD, FAAP, FACMG


July 21, 2022

Hypophosphatasia (HPP) is a rare inherited disease caused by mutations involving the ALPL gene on chromosome 1, which encodes the enzyme tissue nonspecific alkaline phosphatase (TNSALP). Diminished activity of TNSALP results in an accumulation of TNSALP substrates, including inorganic pyrophosphate (PPi), an inhibitor of mineralization. HPP in adulthood is often characterized by osteomalacia, recurrent metatarsal fractures, bone and muscle pain, and often impaired physical function. However, the appropriate management may be effective in improving physical function and quality of life.

How much do you know about adult HPP? Test your knowledge with this quick quiz.


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