About X-linked Hypophosphatemia
X-linked Hypophosphatemia (XLH) is a rare genetic disorder characterized by low levels of phosphate in the blood, caused by mutations in the PHEX gene on the X- chromosome.
Prevalance / Onset
XLH affects between 1 in 20,000 and 1 in 60,000 new births.
As the child starts to bear weight on their legs, symptoms become apparent. This can occur between the ages of 8 and 16 months after birth.
The XLH inherits in the X-linked dominant pattern. Males and females are affected similarly.
- Even though patients with XLH mainly shows rickets (or osteomalacia), it cannot be treated with vitamin D like usual rickets.
Burosumab (Crysvita® FDA approved) Burosumab is used to normalize phosphate levels.
Phosphate supplements are generally required with high dose calcitriol. Growth hormones are used to improve growth in children.
Reducing pain is the main goal for adult patients. Corrective surgery to fix bowed or bent legs can be necessary.
Living with X-linked Hypophosphatemia
- Physical Therapy
Physical therapy may help relieve pain and stiffness by improving the stability and flexibility of joints and muscles.
Occupational therapy may improve the ability to manage daily activities.
Exercises, such as yoga, may benefit patients. Consult with your doctor to make sure certain exercises are right for you.