In the first segment of a 4-part series, Dr. Marc McKee introduces Oasis Discussions followers to a soft bone disease which also has a significant dental impact. Hypophosphatasia (HPP) is a very rare disease that has a prevalence of approximately 1:100,000 live births. Much progress has been made in recent years in understanding HPP, and in treating patients with this condition.
HPP is a disease which negatively affects mineralization due to an increase in inhibitory pyrophosphate levels caused by decreased activity of an enzyme called tissue non-specific alkaline phosphatase (TNAP, TNSALP). This results in the inhibition of mineralization causing soft bones and teeth because pyrophosphate accumulates and is not removed by TNAP, resulting in what is scientifically called osteomalacia as well as odontomalacia. A tell-tale sign of HPP for dental providers is the premature loss of teeth with roots intact in the absence of trauma.
Research has resulted in an enzyme-replacement therapy for HPP – a drug with the generic name Asfotase Alfa, approved for use worldwide in many countries (including in Canada) starting in 2015.