Hypophosphatasia is a rare disease that affects the normal development of bones and teeth. Learn more about its causes, symptoms, diagnosis, and treatments.
Hypophosphatasia (HPP) is a rare genetic disease that affects the normal development of bones and teeth. It is caused by mutations in a gene that affect the function of an enzyme called alkaline phosphatase (ALP). ALP enzyme typically helps with the mineralization of bones and teeth, but mutations lead to insufficient mineralization, making bones weak and prone to fractures. Symptoms of HPP vary from person to person and may include bone pain, frequent fractures, and premature tooth loss. In severe cases, HPP can be fatal in infancy. Doctors can diagnose HPP through genetic tests, X-rays, and blood tests. Treatment includes the use of a drug called asfotase alfa (Strensiq), which replaces the deficient ALP enzyme. Additionally, a care team may include pediatricians, surgeons, and dentists to develop a comprehensive treatment plan. For milder cases, symptoms can be managed through lifestyle changes and other treatments.