How is XLH diagnosed?
XLH patients have low phosphorus in the blood (hypophosphatemia) which can be detected with a simple blood test typically performed in a clinical chemistry laboratory, though blood samples can be drawn in a doctor’s office. This is the most convenient way to test for XLH when there is a known family history. Members of The XLH Network Inc. know that the normal values for phosphorus levels in the blood are dramatically different in children than in adults, but for some reason clinical chemistry laboratories do not always report normal age-matched levels to the physician requesting the test! This can sometimes lead to a missed early diagnosis. If there is no family history, more exhaustive tests will probably be needed to rule out other possible causes of rickets symptoms. The time spent trying to reach a diagnosis in these cases can be frustrating for both parents and the child’s doctor! Specialty care is, however, very important in both the diagnosis and treatment phases of XLH.
XLH patients have low phosphorus in the blood (hypophosphatemia) which can be detected with a simple blood test typically performed in a clinical chemistry laboratory, though blood samples can be drawn in a doctor’s office. This is the most convenient way to test for XLH when there is a known family history. Members of The XLH Network Inc. know that the normal values for phosphorus levels in the blood are dramatically different in children than in adults, but for some reason clinical chemistry laboratories do not always report normal age-matched levels to the physician requesting the test! This can sometimes lead to a missed early diagnosis. If there is no family history, more exhaustive tests will probably be needed to rule out other possible causes of rickets symptoms. The time spent trying to reach a diagnosis in these cases can be frustrating for both parents and the child’s doctor! Specialty care is, however, very important in both the diagnosis and treatment phases of XLH.
