X-linked hypophosphatemia (XLH) is a rare genetic disease characterized by low phosphate levels in the blood. As a result, patients’ bones may be weak and fracture easily. The severity of the symptoms of XLH varies greatly from patient to patient.
What are pseudofractures?
Pseudofractures look a lot like broken bones on X-ray images, but they actually are not breaks. They are areas where minerals were not deposited properly, resulting in weak bones that are more likely to fracture. This type of fracture usually appears in areas of high stress, including joints such as the top of the thigh bone (femur), the lower hip, the forearm, and the shoulder blade, among others. Everyday activities like walking or climbing stairs may cause pseudofractures in XLH patients.
How do I know if I have a pseudofracture?
Talk to your doctor immediately if you are experiencing pain, swelling, bruising, or tenderness around your bones. Pseudofractures may cause pain that lessens when you rest, and that worsens during normal daily activities.
Your doctor will arrange for an X-ray to be taken where you are feeling pain or tenderness. Pseudofractures will be visible in this type of imagery.
How do doctors treat pseudofractures?
Doctors usually treat XLH patients with calcium and phosphate supplements to counteract symptoms of the disease. If you are experiencing pseudofractures, your dosages and treatment schedule may need to be adjusted by your physician.
There is no cure for XLH or pseudofractures. If you are experiencing pain during daily activities, you may be able to work with an occupational therapist to find easier ways of completing your daily tasks. You also may need to work with a physiotherapist to learn muscle strengthening exercises that will help protect the bones, while not causing further fractures.
Both your physical and occupational therapist can help you determine if you would benefit from orthotic braces or walking aids.
A small study of adult patients with moderate-to-severe XLH demonstrated improved healing of fractures and pseudofractures following treatment with Crysvita. The U.S. Food and Drug Administration (FDA) approved Crysvita for treating adults and children 6 months and older, while the European Medicines Agency (EMA) approved it in adults and children older than 1.
Last updated: May 8, 2020
XLH News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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