How Is X-linked Hypophosphatemia Treated?

X-linked hypophosphatemia (XLH) is a life-long condition in which the body does not process the nutrient phosphorus properly. Because phosphorus is necessary for a host of important functions, a wide range of complications can result. There is no cure for XLH, but there are treatments.^1,2

Early diagnosis can help a person with XLH get treatment that slows or prevents the damage caused by low phosphorus levels. The main goal of treatment is to increase levels of phosphorus (phosphate) in the body so it works more normally. This helps reduce symptoms and improves quality of life.¹

Treatments for XLH metabolic symptoms

Metabolism is the process the body uses to get or make energy from the food we eat. With XLH, the body does not process and absorb phosphorus correctly. There are 2 treatments that help with the metabolic issues of X-linked hypophosphatemia:^2,3

• Phosphate (another name for phosphorus) supplements and calcitriol, a strong form of vitamin D
• Bursomab (Crysvita®)

Phosphate and vitamin D supplements help reduce or reverse some of XLH symptoms of weak or misshapen bones and fractures.

Bursomab is a drug approved by the US Food and Drug Administration for use in adults and children older than 6 months. It is a monoclonal antibody given by injection. It works by blocking FGF-23, which increases phosphorus levels in the blood. This makes more phosphorus available for the bones and teeth so they grow more normally.⁴

Treatments for specific complications

Other treatments may be needed to address the many symptoms and complications of XLH, such as:¹

• Growth hormones to combat delays in development
• NSAIDs (non-steroidal anti-inflammatory drugs) for bone and joint pain
• Physical and occupational therapy to help manage problems walking and pain
• Frequent dental care
• Bone surgery to repair fractures or joints that are out of alignment
• Hearing aids

Dental care

Damaged or weak tooth enamel and tooth loss is common in people with XLH, so doctors recommend seeing a dentist every 6 months. They also need to brush their teeth often and floss at least once a day. Abscesses (tooth infections) can come on suddenly and must be addressed quickly.¹

Hearing aids

Hearing loss, ringing of the ears (tinnitus), and vertigo can begin as early as 11 years old in people with XLH. Regular hearing checks can track this complication. It is treated with hearing aids and by avoiding loud noises and drugs known to affect hearing.¹

Emotional support

You or your child having a long-term, complex condition like X-linked hypophophatemia can take a toll on your mental and emotional health. Talking to a counselor or other mental health professional can help you cope with your feelings.¹

It may also be helpful to join a support group. Your doctor may be able to suggest local in-person or online groups to help you find a community of people living with XLH.¹

Regular follow-ups

People with X-linked hypophosphatemia should see their healthcare team regularly. How often will depend on how severe the person’s XLH is and severity can vary widely. Most people will need a team of specialists to address the many complications of XLH.¹

Babies and children may need to be seen every month, 3 months, or 6 months. During puberty, teens should be seen every 3 months. Adults need to see their health team every 6 months to 1 year.¹

It is vital to start treatment as soon as possible to prevent problems, slow or stop existing problems, and help create a more comfortable, functional life.¹