WHAT IS HYPOPHOSPHATASIA (HPP)?
HPP is a rare, multisystemic, inherited metabolic disorder that may progress.
THE SHORT ANSWER:
HPP IS A RARE BUT INHERITED DISORDER.
This means multiple people in the same family may have it. If you’ve been diagnosed with HPP or have symptoms, think about encouraging your loved ones to consider their medical history and get tested as well.
FIND SUPPORTWhile HPP can impact both children and adults, it is an illness that may begin in utero or may become present at any age. Although symptoms may be different depending on certain life stages, persistently low age- and sex-adjusted ALP is a key identifier of HPP.
Perinatal HPP is often the most severe form of HPP that begins in utero or at birth. It is characterized by significant bone loss and needs to be identified quickly to take action.
Occurring after birth but before the age of six months, infantile HPP is marked by low levels of ALP, poor bone formation, respiratory problems, and renal compromise, resulting in serious long-term complications.
For those diagnosed with HPP as children (between the ages of 6 months and 18 years old), symptoms can range widely. Some of the symptoms may include slow or stunted growth, difficulty doing the things other children or teenagers can do (like climbing stairs or riding a bike), broken bones, or muscle pain, weakness, early tooth loss, and fatigue. Sometimes, HPP symptoms will improve on their own; other times, HPP can cause additional complications with age.
For adults (18 years or older) diagnosed with HPP, symptoms can range from mild to severe. At this life stage, HPP may be associated with a number of symptoms including chronic bone pain, softening bones, and poor dentition and gum disease.
HPP IS CAUSED BY A DEFECTIVE ALKALINE PHOSPHATASE (ALPL) GENE.
This makes it difficult for the body to create enough normally functioning ALP enzyme to maintain adequate bone and teeth mineralization over time.
LEARN ABOUT ALPAs a parent, you need to know what steps to take to make sure that they are on the road to progress, on the road to success. Especially with a condition that is very rare.”
ELIZABETH (SECOND FROM RIGHT), MOTHER TO JOSIAH,
PICTURED WITH HER FAMILY
HPP FACTS ARE JUST A CLICK AWAY
Check out this video to learn more about HPP, including who it can affect, possible symptoms, and the impact it may have.
HPP isn’t limited to broken bones and difficulty moving around. As a multisystemic condition, HPP can affect many areas of the body, causing chronic pain and fatigue.
SELECT A SYSTEM BELOW* TO SEE HOW IT CAN BE AFFECTED BY HPP:
*not an exhaustive list