X-linked Hypophosphatemia (XLH) synonyms

X-linked Hypophosphatemia (XLH) is a rare genetic disorder that affects the bones and teeth. It is also known by several other names, including:

• Vitamin D-resistant rickets: This term is used because XLH shares similarities with rickets, a condition caused by vitamin D deficiency. However, XLH is not caused by a lack of vitamin D, but rather by a mutation in the PHEX gene.


• Phosphate-wasting rickets: This name highlights one of the key features of XLH, which is the excessive loss of phosphate in the urine. Phosphate is an essential mineral for bone and teeth health.


• Familial hypophosphatemia: This term emphasizes the hereditary nature of the condition, as XLH is passed down through families. It can affect both males and females, but males are typically more severely affected.


• Hereditary vitamin D-resistant rickets: Similar to the first synonym, this name suggests a connection to rickets but emphasizes the genetic component of the disorder.

XLH is characterized by low levels of phosphate in the blood, leading to impaired bone mineralization and skeletal abnormalities. Common symptoms include bowed legs, short stature, dental problems, and bone pain. The condition can also cause hearing loss and affect the muscles and joints.

Diagnosis of XLH involves a combination of clinical evaluation, blood tests to measure phosphate and other related levels, and genetic testing to identify mutations in the PHEX gene. Treatment primarily focuses on managing symptoms and improving quality of life. This may involve phosphate and vitamin D supplementation, as well as medications to regulate phosphate levels.

Early detection and intervention are crucial in XLH to prevent or minimize long-term complications. Regular monitoring by healthcare professionals, including orthopedic specialists and dentists, is essential to address the specific needs of individuals with XLH.