XLH, or X-linked hypophosphatemia, affects the health of bones in both children and adults.
Children with XLH don’t have enough phosphorus in their bodies. Phosphorus is a mineral that is important to the health and function of bones, muscles, and teeth. Having too little phosphorus—or hypophosphatemia—can cause bones to be weak, leading to childhood conditions like rickets.
Rickets is a major symptom of XLH and usually becomes apparent around the time a child begins standing or walking (about 1 to 2 years old). Rickets can cause pain, delayed growth, and bone deformities in the legs. As a result, children with XLH may face physical challenges.
Low levels of phosphorus can affect bone growth, so children with XLH tend to be short for their age.
Treatment goals in children with XLH may include:
- Increasing and maintaining blood phosphorus levels
- Healing rickets and correcting leg deformities
- Increasing height
When discussing XLH with your child’s doctor:
Ask about the impact of having low phosphorus levels, including the long-term effects of rickets and delayed growth and how that may affect your child.
XLH patient, Cera
XLH in children manifests as rickets and osteomalacia.
Adults with XLH continue to have low levels of phosphorus in their bodies. Phosphorus is a mineral that is important for the health and function of bones, muscles, and teeth—not just during childhood when the body is growing, but also in adulthood. Not having enough phosphorus can cause rickets and osteomalacia, two conditions often described as the weakening of bones. Osteomalacia continues throughout adulthood.
Osteomalacia weakens bones, making them prone to break easily. Normally, minerals like phosphorus are continuously added to bones. This process, called “mineralization,” helps keep bones hard. People who have XLH don’t have enough phosphorus in the body for bones to properly mineralize, which causes some parts of the bone to be more likely to fracture (break). Bones in the feet, legs, and hips are vulnerable to fractures, which can be painful and limit a person’s ability to move.
Treatment goals in adults with XLH may include:
- Raising blood phosphorus within the normal range
- Healing active fractures/pseudofractures and osteomalacia
When discussing XLH with your doctor:
Be open about all symptoms you are currently experiencing. Ask for a skeletal evaluation to check for possible fractures. Phosphorus is important for healthy bones even when you’re an adult.
XLH patient, Aly
XLH in adults manifests as osteomalacia, which can lead to fractures and pseudofractures.