Get answers to the most frequently asked questions about HPP/Softbones.

1. What is HPP?
HPP is a metabolic bone condition that most often affects the development of bones and teeth. It is estimated that severe forms of HPP occur in approximately one of every 100,000 live births. While exact numbers are unknown, the more mild childhood and adult forms are probably more common and one out of every 200 American may be a carrier for HPP. Because HPP affects every person differently, there is a wide spectrum of symptoms and severity of the condition. For more information, click here or see our publications that have been medically validated by the Soft Bones Scientific Advisory Board.
2. What is the prognosis for someone with HPP?
Because HPP affects every person differently, there is a wide spectrum of symptoms and severity of the condition. Mild cases may only cause dental abnormalities while the more severe types have life-threatening consequences. For more information, click here.
3. What type of doctor should I be seeing?
For the more severe forms of the disease, it is recommended to consult a large medical institution or a physician who has clinical experience in treating HPP. It is also important to have a primary care physician who becomes knowledgeable about HPP and can help coordinate care as multiple specialties may be needed to deal with the complications of the disorder. Soft Bones maintains a list of physicians with an interest and expertise in HPP.
4. What kind of treatments or medications are available?
In the summer of 2015, the first-ever treatment for HPP was approved for use in Japan, Canada and the European Union (EU). Strensiq (asfotase alfa) is indicated for treatment of patients in Japan with HPP, as enzyme replacement therapy for patients with a confirmed diagnosis of pediatric-onset HPP in Canada and for long-term enzyme replacement therapy in patients with pediatric-onset hypophosphatasia HPP to treat the bone manifestations of the disease in the EU. The European approval applies to all 28 EU member states as well as Iceland, Norway, and Lichtenstein. The most common adverse reactions observed in clinical studies were injection site reactions and injection-associated adverse reactions. Most of these reactions were non-serious and mild to moderate in intensity. As always, patients should consult with their healthcare professionals about the treatment options that are right for them. Alexion, the makers of Strensiq, stated that the product will be available in Japan by late Q3 2015, in Germany in October and noted they are expecting regulatory decisions in the U.S. in the second half of 2015.

There continues to be research to learn more about HPP and to develop additional treatments for the disorder. Visit clinicaltrials.gov for more information and to learn about opportunities for HPP patients to participate in ongoing research.

5. If I have a child with HPP will others also develop the condition?
A faulty gene (the TNSALP or ALPL gene) is the cause of HPP. The affected gene can be passed from generation to generation, but it is possible for people to carry the gene and not exhibit any symptoms. These people are referred to as “healthy carriers”. In the severe perinatal and infantile forms of HPP, one defective gene is inherited from each parent, and some milder childhood or adult HPP patients may develop it this way as well. Other mild adult and odontohypophosphatasia cases seem to be inherited when there is only one defective gene from one parent. Individuals with HPP and parents of children with HPP are encouraged to seek genetic counseling to explain the likelihood and severity of HPP recurring in their families. For more information, please see our publications that have been medically validated by the Soft Bones Scientific Advisory Board.
6. Where can I talk with or learn from others who have or are taking care of someone with HPP?
We have an incredible community of people and families living with HPP. Soft Bones has been designed to allow families and patients to receive the latest updates and connect with others who have and are affected by HPP. Click here to learn more.
7. What can I do to get involved and help advance research and funding?
By joining together, we can help increase awareness of HPP and support those who live with the disease. You can contribute financially, by donating, to advance the awareness, education efforts and support of the HPP community and you can get involved in the numerous activities Soft Bones undertakes to advance our mission to connect, empower and educate those impacted.