Diagnosis of XLH
Early and accurate diagnosis of
Diagnosis of XLH is typically during childhood, usually
Do you suspect that you or your child might have X-linked hypophosphatemia (XLH)?
During early childhood, you can recognize common symptoms of XLH such as:
- Impaired growth and short stature
- Outward curving of the legs, also known as bowed legs, when a child is in a standing position
- Knock-knees, a condition when both the knees are at an angle touching each other
- Bone, muscle, and joint pain
- Dental abscesses, which appear as small, pus-filled ulcers in the gums
- Waddling gait while walking
- Enlargement of wrists and knees
- Misshapen head
The earlier XLH is identified, the better the chances are of managing the symptoms and, therefore, the condition.
XLH is not merely a pediatric condition. Since XLH progresses with time, adults continue to have it, too.
In some instances, adults with XLH may be misdiagnosed during childhood or can remain undiagnosed. They may continue to experience unresolved symptoms of their ongoing condition as:
- Bone pain
- Joint pain and stiffness
- Fractures and pseudofractures
- Early onset of osteoarthritis
- Dental abscesses
- Fatigue and weakness
Understanding your care team
Diagnosing XLH can be tricky because it is a rare condition. It is important that you find doctors who are knowledgeable about XLH and can identify and manage the condition. These specialists are often found at university medical centers and specialize in metabolic bone disorders.
ENDOCRINOLOGIST specializes in treating disorders that affect hormones.
NEPHROLOGIST specializes in treating disorders that affect the kidneys.
RHEUMATOLOGIST specializes in treating disorders that affect the joints and muscles.
MOLECULAR GENETICIST specializes in treating genetic disorders.
Your care team can include other professionals:
DENTISTS can help manage oral care as teeth can be more prone to infection with XLH. Regular check-ups and establishing a plan with your dentist can help prevent recurrent teeth infections.
PHYSICAL THERAPISTS can help you strengthen your muscles and teach you how to properly exercise to avoid injury.
OCCUPATIONAL THERAPISTS can help you fine tune your movement to optimize daily activities such as showering and cooking.
Find an XLH specialist near you
Play an active role during your visit
It’s not easy to remember everything your healthcare professional will tell you during your visit. Keeping a diary to record symptoms, appointment dates, notes about medicines, and even jotting down questions you might have can help you keep track of the information you receive. The more engaged you are, the easier the diagnosis process and symptom management will be for you and/or
WHAT TO EXPECT AT DOCTOR APPOINTMENTS
At appointments, your doctor may:
- Ask questions about family history of symptoms associated
with XLH - Obtain labs, such as blood and urine samples
- Obtain X-ray to evaluate the condition of
the bones - Recommend genetic testing to help confirm a diagnosis of hypophosphatemia
- Discuss treatment options that may help improve the symptoms
of XLH
Help prevent misdiagnosis by engaging and voicing your concerns with your doctor.
Because XLH is a rare condition that affects anywhere from 1 in 20,000 to 1 in 25,000 people, it can be mistaken for other conditions, such as:
Nutritional rickets and other types of rickets disorders that can be inherited
Normal variations in the appearance of the legs (physiologic leg bowing)
Hypophosphatasia, a condition that also affects bones and teeth
Early and accurate diagnoses are key to improved
