How Hypophosphatasia Is Treated

Hypophosphatasia (HPP) is a rare inherited disease that disrupts the mineralization process responsible for the development of bones and teeth. Defective mineralization means a person with the condition will have bones that are soft and vulnerable to fractures and deformities. People with HPP also experience premature tooth loss.

HPP is a lifelong condition, but most types of HPP are treatable. This article will discuss the different options for treating HPP, including home remedies and lifestyle therapies, over-the-counter medicines, prescriptions, physical and occupational therapy, and, if needed, surgery and other procedures.

Home Remedies and Lifestyle

Management of HPP at home will depend on how significant the symptoms are. There are a variety of at-home and lifestyle remedies that might help to reduce the effects of the condition on your day-to-day life.

Take Necessary Steps to Protect Your Bones 

Vitamin D and calcium supplements can help manage HPP, but they are not always necessary. People with HPP should consume normal amounts of vitamin D and calcium, just like others without the condition.

The daily recommendation for calcium is 1,000 milligrams (mg) per day. The daily recommendation for vitamin D is 600 international units (IU).

People with HPP should avoid bisphosphonates, a class of osteoporosis drugs that might worsen HPP. This might be a bigger problem for adults with HPP who are sometimes misdiagnosed with osteoporosis or who may have both conditions.

Infants and children with HPP who also experience rickets (bone weakening) shouldn’t be given vitamin and mineral supplements. This is because the general defects of vitamin D deficiency from HPP can lead to hypercalcemia (above normal calcium levels).

Pay Attention to Diet

Maintaining a healthy weight with HPP can reduce the risk for fractures (broken bones) linked to HPP.

There is no special diet for HPP, but you should aim to follow a bone-friendly diet, including to:

• Eat plenty of fresh vegetables, fruit, and whole grains.
• Substitute foods with trans fats and saturated fats (red meat and full-fat dairy) for healthy ones (lean meats, plant-based protein, low-fat dairy, plant-based milk substitutes).
• Steer clear of heavily processed foods. Processed and prepackaged foods are high in fat and sugar.
• Avoid foods high in sugar and processed sugars like corn syrup, fructose, sucrose, and maltose.
• Stay away from fried foods. Most are loaded with salt, fat, and calories.
• Avoid refined carbohydrates like white flour, white rice, and white potatoes.
• Drink alcohol in moderation only. Excessive alcohol consumption interferes with the balance of calcium and the production of vitamin D.
• Eat bone-friendly foods. Good sources of calcium include low-fat dairy (milk and cheese), leafy green vegetables (broccoli and cabbage), tofu, nuts, and fish with bones (sardines and carp). Good sources of vitamin D include oily fish (salmon, sardines, and mackerel), liver, egg yolks, and vitamin D fortified foods (breakfast cereals and soy or almond milk).

Be as Active as You Can

Low-impact exercise (such as walking, swimming, and yoga) can help improve general bone health. However, it is a good idea to check with your (or your child’s) treating physician about what exercises are safe for people with HPP.

Children with walking difficulties may struggle with physical activity. While there are no specific exercises guidelines for HPP, children and adults with the condition might consider avoiding contact sports and protecting their teeth during physical activity.

Practice Good Oral Hygiene

Regular dental visits can help prevent cavities and get ahead of any dental problems. Children might need an adult to help them brush their teeth until they develop the coordination to brush adequately. Have children use fluoride toothpaste to help prevent tooth decay, and avoid giving them large amounts of sugar (including sweetened drinks or candies).

Mouthguards should be worn while participating in sports that can lead to dental trauma (such as football, soccer, and basketball) and to prevent loss of permanent teeth.

Adults with HPP should brush and floss well and have regular professional teeth cleanings to reduce the risk for periodontal disease. The risk for periodontal disease is increased with adult HPP.

Work on Making Life Easier

HPP can be a disabling condition for some people. In children, it can cause skeletal malformation, bone and joint pain, and enlarged ankle and wrist joints. In adults, HPP is linked to musculoskeletal disorders, frequent fractures, slow healing, chronic joint pain and inflammation, and muscle pain.

These symptoms can make day-to-day activities harder, so it is vital to be sure that places are accommodating and accessible and that support is available in dealing with HPP challenges.

There are ways to make life with HPP easier for a child or an adult:

• At school: The Individuals with Disabilities Education Act (IDEA) entitles children with disabilities to special education starting as early as 2 years of age. If such services are needed for your child, reach out to the school's counselor or your local board of education.
• At work: The Americans with Disabilities Act (ADA) protects against workplace discrimination. If you need reasonable accommodations on the job, your employer is required to provide those.
• At home: Ensure your home is adapted to living with HPP. This includes installing railings, adding seats in the bathrooms, and making rooms of your home wheelchair accessible.

Over-the-Counter (OTC) Therapies

Some nonprescription medicines can help lessen symptoms of bone or joint pain linked to HPP. Additionally, orthopedic devices can help people with HPP move and function better.

Pain Relievers

NSAIDs (nonsteroidal anti-inflammatory drugs), including aspirin (for adults only), naproxen, and ibuprofen, can help ease pain and inflammation associated with HPP. Acetaminophen can also be an effective pain reliever for minor aches and pains linked to HPP.

Long-term use of NSAIDs and acetaminophen comes with a risk for side effects, so the use of these medicines should be carefully monitored by a medical provider.

Orthopedic Devices

Orthopedic devices can help you stay mobile and function. This includes devices like walkers, grabbers, and wheelchairs.

People who have frequent stress fractures from HPP may require orthotics (special shoe inserts). Children are generally given orthotic braces to promote bone and joint stability, while in-sole orthotics might be used by both adults and older children.

Talk to the treating physician about orthopedic devices that might be helpful for you or your child.

Prescriptions

Different pharmaceutical approaches are taken for treating HPP, including enzyme replacement therapy, medication to regulate calcium levels, and treatment for seizures.

Strensiq

Strensiq (asfotase alfa) is an enzyme replacement therapy that was approved by the Food and Drug Administration (FDA) in 2015 as first-line therapy for HPP. It is often prescribed to infants and children with HPP.

Strensiq works by targeting the root causes of HPP, abnormalities of an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). Strensiq contains a formulation of asfotase alfa to replace the missing enzyme.

It is available in single-use glass vials at different dosages and strengths. Strenisiq is given as a subcutaneous injection.

Calcitonin

Calcitonin is given to control calcium and potassium levels. It regulates blood calcium levels to reduce bone problems in people with HPP.

Calcitonin is available as a subcutaneous injection. The dosage and strength will vary depending on the age of the person using the treatment and the severity of their symptoms. Make sure you follow your doctor’s instructions for using calcitonin, including the length of time for treatment.

Vitamin B6

In babies, vitamin B6 (pyridoxine) can help to control seizures. Pyridoxal phosphate (PLP), a natural underlying substance of alkaline phosphate, helps to regulate essential enzyme activity to reduce seizures.

Vitamin B6 is given either orally, as a subcutaneous injection, or intravenously (IV, through a vein). For babies and children, it is often given by injection or IV.

Surgeries and Specialist-Driven Procedures

Surgeries and special procedures are considered if they become necessary for managing HPP.

Surgery

In infants and young children with craniosynostosis (an abnormally shaped head due to the spaces between the skull bones closing early) that is causing increased intracranial pressure, surgery might be recommended to relieve the pressure.

Surgery can also repair bone and joint damage or deformities associated with HPP. For some adults and older children who experience recurrent fractures of the long bones, an orthopedic procedure called rodding might be done.

This procedure involves a surgeon inserting a metal rod into the center of the bone. The rod passes through the fracture to keep the long bone in position to stabilize and strengthen it.

Respiratory Support

Perinatal (before birth) and infantile (in infancy) HPP are both linked to respiratory complications. The degree of respiratory difficulty varies and can sometimes be life-threatening. 

Adult HPP can sometimes cause severe respiratory insufficiency from chest deformities linked to the condition.

Babies and younger children may require ventilation and intubation and sometimes even life support. Adults and older children may require supplemental oxygen support and in severe cases, ventilation and intubation.

Physical Therapy

For some people, HPP can cause significant pain and inflammation and affect mobility. Physical therapy (PT) can offer an individualized approach to managing the condition. PT can be a helpful intervention for optimizing body function, lessening physical impairments, and increasing independence. 

Adults who experience fractures can also work with physical therapists to speed up recovery.

Occupational Therapy

An occupational therapist can create an individualized treatment plan to improve function, reduce pain, and teach ways to make activities easier without putting strain on affected bones and joints. With HPP, occupational therapy can improve strength, motor skills, and body positioning.

Summary

Hypophosphatasia can have wide-ranging effects on people with the condition and their families. Fortunately, most of the time the condition is treatable and manageable. Treatment includes a wide range of therapies, including at-home remedies and lifestyle therapies, over-the-counter and prescription medicines, surgeries, medical procedures, and therapies.

One of the newest therapies for managing and treating HPP is an enzyme replacement therapy called Strensiq. It works by targeting the root causes of HPP to lessen symptoms of the condition.

A Word From Verywell

Hypophosphatasia is a lifelong condition. It comes with many different symptoms and complications.

Treatment for the condition requires a multidisciplinary team of specialists. This team may include specialists in pediatrics, endocrinology, genetics, rheumatology, orthopedics, pain management, physical and occupational therapy, neurology, periodontics, and oral surgery.

Having a diverse medical team can make a difference for individuals and their families, as they deal with the many challenges that HPP brings about.