Hypophosphatasia (HPP) is a rare genetic disorder that affects bone and teeth development. Doctors tailor treatment for HPP to the individual. Sometimes no treatment is necessary, but various medications and therapies can help with symptoms.
Mutations in the ALPL gene can cause hypophosphatasia. The ALPL gene codes for ALP, an enzyme necessary to allow calcium and phosphorous to deposit in bones correctly. A lack of these minerals means that bones become soft and fracture easily. Additionally, a person’s teeth can fail to develop properly or fall out.
There are different types of HPP, and symptoms vary depending on the severity of the disorder. Doctors may not diagnose mild cases until adulthood, but the condition can be life threatening in more serious cases. Severe HPP occurs in approximately 1 in 100,000 live births.
Doctors consider many factors when treating someone with HPP, for example, the severity of symptoms.
Continue reading to find out more about hypophosphatasia treatment.
Treatment can commence after a person receives a diagnosis. Doctors with experience in HPP can often identify the condition easily. However, many individuals go without a diagnosis, while others may face delays or receive a misdiagnosis. Despite this, some tests can analyze genetic mutations in the ALPL gene to support a diagnosis of HPP.
Before treatment begins,
There are several types of HPP, including:
- perinatal HPP
- infantile HPP
- childhood HPP
- adult HPP
The symptoms of HPP vary widely and may begin before birth or in adulthood.
In children, they include:
- soft, weakened bones that break easily
- atypical bone development
- losing baby teeth early
- an inability to grow typically
- bowed legs or knocked knees
- decreased mobility
- an atypical skull shape
- breathing issues
- kidney problems
Adults may experience frequent fractures, joint pain and inflammation, and premature tooth loss.
Doctors may also look for any underlying conditions that might cause or worsen hypophosphatasia. Imaging tests can be helpful and allow doctors to assess bone development and determine if treatment is necessary.
While there is no cure for HPP,
Doctors tailor treatment to each person and their specific needs using several therapies. The treatment options include the below.
Physical therapy for people with HPP can yield the following benefits:
- restoring strength
- gaining flexibility
- improving mobility
Therapy for children with HPP should begin as early as possible.
Therapists will likely create individualized treatment plans that help correct bone misalignment, manage existing fractures, and ease pain. The goal is to help the person reach their highest level of functioning and independence.
Additionally, occupational therapists can teach people mobility skills, such as walking and using a wheelchair, if necessary. They can also recommend adaptive devices to help with a person’s daily activities.
A drug called asfotase alfa (Strensiq) has approval to treat pediatric-onset HPP in people of all ages. Doctors administer this drug by injection under the skin. Afotase alfa replaces missing ALP, allowing phosphate and calcium to bind together and mineralize bones properly.
Other medications can help with the specific symptoms of HPP. For example, nonsteroidal anti-inflammatory drugs can reduce inflammation and pain.
Doctors may also recommend vitamin B6 to control seizures in babies with severe HPP. If these individuals have high blood calcium levels, diuretics and calcitonin injections — a hormone that reduces calcium levels — may also be beneficial.
People with HPP often experience premature tooth loss and require special
Regularly visiting a dentist can be important in a person’s treatment plan. Dentists may offer additional orthodontic treatment for people with HPP to minimize tooth loss and prevent remaining teeth from shifting out of alignment.
Additionally, crowns, bridges, or dental implants can replace missing teeth.
Optimal nutrition is important for people with HPP to maintain a moderate weight and optimize bone health.
Where possible, people need to eat a nutritious diet with plenty of essential vitamins, minerals, and proteins. A doctor or dietitian can best advise on meal plans and whether someone needs additional nutritional supplements to meet their daily requirements.
If an individual has bone fractures or abnormalities, a doctor may recommend surgery to help repair the damage and improve mobility.
Adults who experience recurring fractures in the long bones, such as the femur or tibia, may benefit from orthopedic rodding. This procedure involves inserting a metal rod into the central core of the bone to increase strength and reduce the risk of fractures.
People may also benefit from medical devices and limb braces to help with fractures.
Hypophosphatasia, or HPP, is a rare genetic disorder that affects bone and tooth development. There is no cure for the condition, but treatments are available to minimize or prevent complications.
Treatment may include medications, surgery, physical therapy, dental care, and nutritional changes depending on the severity of symptoms. Doctors typically tailor treatment plans to individuals and their specific needs to help them reach the highest level of functioning.