X-linked hypophosphatemia (XLH) is a rare genetic disease caused by mutations in the PHEX gene that can affect patients’ quality of life. It is characterized by weakened bones and teeth, resulting from excess excretion of phosphate by the kidneys.

Since phosphorus, which exists as phosphate in the blood, is important for proper bone and teeth development, its low availability in the blood leads to symptoms such as osteomalacia — soft and weak bones — early osteoarthritis, fractures, pain, stunted growth, and dental abscesses, which is the buildup of pus in the teeth.

Proper symptom management can help improve the quality of life of people with XLH.

XLH in children

XLH in children can affect proper bone development and make bones prone to fractures. Adequate symptom management can reduce the impact of the disease on children’s school performance and self-esteem.

Dental abscesses

Dental abscesses are a common feature of XLH in children and can lead to the loss of permanent teeth. Regularly brushing and flossing along with periodic dental checkups can prevent oral infections. Avoiding candies and other sugary snacks also can be beneficial.

Hearing loss

Symptoms of hearing loss can start from as early as age 11 as XLH affects the small bones in the ear. Hearing loss also may be accompanied by a feeling of dizziness, known as vertigo. Consultation with an ENT, or ears nose, and throat specialist can help in correcting hearing loss.

Pain

XLH leads to symptoms such as osteomalacia and bowed legs that can be quite painful and hinder children from taking part in physical activities. Orthopedic treatments may be required to facilitate proper bone growth. Physiotherapy can help in pain relief, and strengthen muscles and joints. Occupational therapy can help in effectively managing daily activities while avoiding pain.

XLH in adults

Adults show many of the XLH symptoms that children have. Since adult bones tend to bear more body weight, the chances of fractures are high, especially in the hips, legs, and feet. Fractures combined with low muscle strength and enthesopathy — problems in the attachment of ligaments and tendons — can drastically inhibit movement, causing pain and affecting patients’ overall quality of life.

Surgery to correct bone deformities may be required for adults with XLH. Use of non-steroidal anti-inflammatory drugs (NSAIDs) and intraarticular (IA) joint infiltration, or the injection of drugs in the joints, can help in pain relief.

An active lifestyle coupled with physical and occupational therapy, and other activities such as yoga and meditation can help in combating stress and strengthening bones and muscles.

If individuals with XLH are working, it is important for them to to keep their employer aware of the situation so that appropriate workspace modifications, working hours considerations, and necessary time-off are provided to prevent fatigue and injury.

 

Last updated: Jan. 6, 2020

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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 providers 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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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.