X-linked hypophosphatemia (XLH) is a rare X-linked genetic disease characterized by low levels of phosphate in the blood, and is caused by a mutation in the PHEX gene. This gene influences the activity of a protein called FGF23, which is responsible for regulating the reabsorption of phosphate by the kidneys.
In XLH, phosphate is abnormally processed and excreted by the kidneys, leading to low levels of phosphate in the blood and to rickets-like symptoms that affect the bones and muscles.
What is the impact of XLH on life expectancy?
A recent study showed that XLH can reduce the average life expectancy of affected individuals by about eight years compared to people without the disease.
Symptoms of XLH such as bone deformities; bone, joint, and muscle pain; osteoarthritis; enthesopathy (tendon or ligament attachment problems); and dental abscesses can also reduce quality of life for patients.
How do symptoms vary?
Individuals with XLH show varying levels of symptom severity. Some may experience reduced growth but otherwise be in good health. Symptom severity usually increases with age. Early diagnosis and treatment can help improve quality of life in most cases.
What can help improve quality of life?
Adequate supplementation of phosphorus and calcium can help to improve the symptoms of the disease and increase life expectancy. Children diagnosed with XLH should continue supplementation until their bones are fully mature.
Crysvita therapy may be prescribed to children and adults with XLH to reduce FGF23 levels and boost phosphorus availability in the blood in order to increase their life expectancy.
Physiotherapy and occupational therapy can help relieve pain and stiffness in daily activities. Consistent activity with sufficient breaks throughout the day, followed by a good night’s sleep, can also help boost a patient’s quality of life.
In addition, patients should practice good oral hygiene and get regular dental checkups to help combat dental abscesses.
Last updated: Dec. 9, 2019
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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