Diagnosis

Diagnosis

There are many ways to diagnose this disease and many small indicators that can point to it.  One of the first and easiest ways to see if you are headed in the right direction is to see your local primary care professional and request a CMP (comprehensive metabolic panel).  This test will show what your blood levels of alkaline phosphate are.  If they are below 40 mg/dL for an adult then you should do further research with your primary and carefully examine your past medical history.  Things like early loss of baby teeth, bowed or bowing of the legs, chronic bone and joint pain, unexplained fatigue, seizures, and repeated fractures non-traumatic in origin are all early indicators of HPP.  Keep in mind that Alkaline Phosphate levels vary widely with age and gender so be sure to consult the correct tables once you receive your labs as most do not flag low levels based on age or gender.   If you are a known carrier then early ultrasounds if pregnant by a professional are recommended.  If you or your doctor think you may Hypophosphatasia, you can contact Alexion Pharmaceuticals to find the proper tests that need to be run to confirm diagnosis.  Keep in mind that there are two types of diagnosis, one is a genetic diagnosis confirmed through genetic testing, the other is a clinical diagnosis.  Because there is so little known about this disease professionals are finding more and more mutations that cause HPP.  I personally have a clinical diagnosis with unsure genetic findings so not all people will come back with positive genetic results.  Because the mutations can vary from generation to generation, a parent may have no symptoms and only a very mild mutation while their child has symptoms due to a more severe mutation.

Link to the advocacy page of Alexion Pharmaceuticals

http://www.alexion.com/patients/advocacy

http://onlinelibrary.wiley.com/doi/10.1002/uog.16521/full

http://hypophosphatasia.com/hcp/index.php/accurately-diagnose/low-alp-can-differentiate-hpp

http://www.dimensionsofdentalhygiene.com/2017/04_April/Features/Signs_and_Symptoms_of_Hypophosphatasia.aspx

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