Diagnosis of XLH
Early and accurate diagnosis of
Diagnosis of XLH is typically during childhood, usually
Early and accurate diagnosis of
Diagnosis of XLH is typically during childhood, usually
During early childhood, you can recognize common symptoms of XLH such as:
The earlier XLH is identified, the better the chances are of managing the symptoms and, therefore, the condition.
See the different symptoms of XLH in children
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:
See the different symptoms of XLH in adults
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.
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
At appointments, your doctor may:
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