What is X-Linked Hypophosphatemia
Living with X-linked hypophosphatemia (XLH), is also called X-linked dominant hypophosphatemic rickets, or X-linked Vitamin D-resistant rickets. XLH is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein. The prevalence of the disease is 1:20000.
The most common symptoms of XLH
Osteoarthritis
Poor Bone Health
Bone Pain
Low Bone Density
Easily Fractures
Short Stature
Bowlegged
Major Tooth Abscesses
Large Dental Pulp
Tinnitus
Waddling Gait
Muscle Pain
Weakness
Crysvita is indicated for the treatment of X-linked hypophosphatemia (XLH) in adult and pediatric patients 1 year of age and older.
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Oral phosphate, calcitriol; in the event of severe bowing, an osteotomy may be performed to correct the leg shape.
Treatment generally involves supplements ofphosphate and high-dose calcitriol (the active form of Vitamin D), and may also include growth hormones , corrective surgery, and dental treatment.
