WHAT IS XLH?
X-Linked Hypophosphatemia (XLH) is a rare genetic disorder that affects about one in 20,000 people.
The key characteristic of XLH is a low level of phosphorus in the blood, called Hypophosphatemia. When a person is affected by XLH, their kidneys do not properly handle Vitamin D and phosphorus. This causes a variety of symptoms and disorders that usually affect bones and teeth.
WHAT CAUSES XLH?
Low phosphorus in the blood, the key characteristic of XLH, is the result of a mutation that inactivates one of the genes on the X chromosome (hence the “X” in XLH). That means XLH is transferred genetically. However, XLH can appear spontaneously in an individual with no known family history.
WHAT ARE THE SYMPTOMS OF XLH?
Patients with XLH experience abnormal bone and tooth development. Many develop rickets, presenting with knock-knees or bowing of the legs.
Other symptoms include:
- Waddling gait
- Short stature or declining growth rate
- Spontaneous tooth abscesses
- Bone pain, muscle pain and weakness
WHAT DO I NEED TO KNOW ABOUT XLH DIAGNOSIS?
Symptoms of XLH can be apparent before a child begins to walk. But as a rare genetic condition, XLH is often undiagnosed or misdiagnosed as simple Vitamin D deficiency. In the average person, normal diets and sunlight exposure successfully treat Vitamin D deficiency and conditions like rickets, but this doesn’t work for people with XLH. Early diagnosis is extremely important for effective XLH treatment. The XLH Network is committed to helping medical professionals diagnose XLH, and to empowering XLH-affected individuals and their families to successfully advocate for their diagnosis and treatment.
IS THERE A CURE FOR XLH? IS IT TREATABLE?
XLH is not curable, but it is treatable. XLH is treated with a combination of medication and surgical or orthopedic treatment, depending on each case. The XLH Network strongly suggests relying on specialists familiar with the condition and experienced in treating and managing it.
A Worldwide Patient Support Organization for People Living and Dealing with X-Linked Hypophosphatemia (XLH)