Given the disparate symptoms that can occur in X-linked hypophosphatemia (XLH) — including bone abnormalities, muscle weakness, and pain — it’s important to coordinate between a multidisciplinary team of physicians and other specialists to ensure that you or your child get optimal care.
XLH is a rare genetic disease, characterized by low blood levels of phosphate, that can affect both children and adults. Depending on the symptoms, you or your child may benefit from specialized medical care. Setting up a multidisciplinary team will ensure you have any needed specialists in place.
In addition to your primary physician, this team may include dentists, orthopedists, geneticists, endocrinologists, rheumatologists, nephrologists, pain specialists, and ear, nose, and throat doctors. Other members of your team may be dietitians, occupational therapists, psychologists, physiotherapists, and orthotists, which are healthcare professionals who make and fit braces and splints.
The following will provide more details about the services these team members may provide.
Dental issues are common among XLH patients. Children with the disease often have painful tooth abscesses or infections under the teeth. Adults with the disease also are prone to tooth abscesses and may develop periodontitis, a serious gum disease.
A dentist may take regular X-rays to spot problems before they develop, or make a referral to a specialist for advanced treatment if necessary.
Regular visits can help you or your child to optimize your dental health.
Pediatric and adult orthopedic surgeons treat issues that affect bones, joints, ligaments, and tendons. They can provide advice on procedures to correct bowed or twisted bones in adults and children with XLH.
These specialists handle disorders of the endocrine or hormonal system, which influences growth and development. You or your child will likely have an endocrinologist who focuses on metabolic bone disorders such as XLH.
XLH involves the kidneys. Thus, nephrologists — kidney doctors — will look at how your or your child’s kidneys are functioning. They’ll also assess phosphate levels in the body. These specialists will, at intervals, check for nephrocalcinosis, an accumulation of calcium in the kidneys that could negatively affect their function.
Bone pain is another common symptom of XLH. Studies showed that pain that affects life quality occurs in 65-80% of all children with XLH. Pain specialists can pinpoint possible pain causes and provide advice on the ideal treatment.
Some children — and adults — with XLH may benefit from psychological support due to the burden of disease symptoms and their effects on patients’ quality of life. Counselors can help you or your child to understand and cope with any anxieties and concerns you may have about living with XLH.
Such specialists treat disorders that affect the bones, muscles, joints, and soft tissues. Because several XLH symptoms are common to other musculoskeletal conditions, you may benefit from having on your team a rheumatologist who is familiar with rare skeletal diseases, particularly XLH.
These experts can offer advice on genetic testing and options should you and your partner wish to start a family and have concerns about passing on the disease to your children.
For XLH patients, it’s important to see a physiotherapist who specializes in musculoskeletal conditions. These specialists can help you to move better and be as active as possible for as long as possible.
Occupational therapists are specialists who can help you or your child find practical solutions for carrying out everyday tasks. These therapists can help you or your child to make better use of equipment, technology, or adaptations at home, work, or school.
Working with orthotists, professionals who make and fit braces and splints, may be helpful.
Orthotists specialize in the design of devices to correct deformities, support weak joints, and reduce the burden on the skeleton. They will assess your needs and come up with aids to improve movement, relieve discomfort, or correct a deformity.
Proper nutrition is essential in managing XLH symptoms. A dietitian can help you develop a diet that is right for you or your child.
Ear, nose, and throat (ENT) doctors
Consultation with an ENT can help correct hearing loss in XLH, which affects the ear’s soft bones.
Last updated: Feb. 5, 2021
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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