How is hypophosphatasia (HPP) diagnosed?
Because HPP is a rare condition it may not be something healthcare professionals immediately recognise. Symptoms can appear at different ages and often resemble those of other conditions, which can make diagnosis challenging. Raising awareness of HPP and its key signs can help ensure that people receive the right tests and support sooner.
In both children and adults, this usually means finding two or more key features of HPP together with persistently low levels of alkaline phosphatase (ALP) in the blood.
Persistently low ALP is a key indicator of HPP. However, low ALP can also occur with other conditions and some medications. On top of this, “normal” ALP levels vary with age and sex, so doctors will look at the entire picture, not just the blood test result.
In some people with HPP, vitamin B6 is high, and X-rays can show bone changes or joint problems from low ALP (sometimes called “pseudogout”).
It’s not uncommon for people with HPP to be misdiagnosed at first. If a doctor isn’t familiar with the condition, they can consult specialists with other professions who have a deeper understanding of HPP.
Common misdiagnoses include bone and rheumatic disorders, along with others listed below.
Common misdiagnoses include bone and rheumatic disorders, along with others listed below.
HPP may be misdiagnosed as:*
*List is non-exhaustive.
The information provided in this material is intended as a source of education for the general public. It is not intended for any self-diagnosis purposes nor to replace the advice of your doctor or healthcare professional. Please consult your doctor or healthcare professional if you have any questions or concerns.