What Is Hypophosphatasia?
9. How Is Hypophosphatasia Diagnosed?
The majority of physicians do not know much about hypophosphatasia, so it often requires a specialist to diagnose. One way that hypophosphatasia is tested for is through molecular genetic testing to detect mutations in the TNSALP gene. More severe cases can be seen through an X-ray; however, it may be missed or misdiagnosed by radiologists who are not experienced with the disorder. Another way to confirm if bone deformations are related to hypophosphatasia is to measure the serum level of vitamin B6. If the levels of vitamin B6 are elevated, this can indicate the onset of hypophosphatasia.
The most common test is a direct measurement of the serum levels of alkaline phosphatase. Children who are developing hypophosphatasia have lower levels than normal. Physicians need to understand that children typically have higher levels of alkaline phosphatase than adults; therefore, the baseline should be considered to be higher when testing in children than when testing in adults. Other conditions can be indicated by the lack of alkaline phosphatase, so if this is determined, the other tests should also be conducted. In summary, a full diagnosis should include biochemical studies and X-rays, a variety of laboratory tests, a detailed patient history and an identification of the symptoms and signs that would be characteristic.
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