HPP Breaks More Than Bone

It can affect many parts of your body1

Though people with hypophosphatasia (HPP) typically experience their first or most obvious symptoms in their bones and teeth, HPP can also cause problems in the brain, muscles, joints, lungs, and kidneys. Because HPP can cause so many different symptoms, people with HPP may not realize that all of their symptoms are connected to the same disease.1-3

Signs and symptoms of HPP could include:

Bones

  • Weak or brittle bones6
  • Rickets due to HPP1
  • Frequent fractures, especially in the thigh bones, feet, and toes1,7
  • Bowing of the legs1
  • Fractures that do not heal properly
    or heal slowly7
  • Bone pain that won’t go away1

Teeth

  • Early tooth loss before the age of 5 years8
  • Tooth loss in which the entire tooth, with the root, painlessly slides out (this can happen in adults and children)8

Muscles and joints

  • Muscle weakness1
  • Long-term pain in the muscles or joints1,9
  • Arthritis (mainly in adults)1
  • Pseudogout caused by deposits of calcium
    in the joints1
  • Inability to walk without an assistive device such as crutches, a walker, or a wheelchair1

Ribs and lungs

  • Bones in the rib cage may not grow properly (called rachitic chest)1
  • Rachitic chest can lead to underdeveloped lungs (especially in children) and breathing complications1
  • Severe breathing complications that require an assistive breathing device
    (especially in children)1
  • Pneumonia, an infection of one or both of the lungs10,11

Signs and symptoms in the lungs can be life threatening in infants.1 If your child is experiencing breathing problems that might be related to HPP, contact your doctor immediately.

Skull and brain

  • An abnormally shaped head (called craniosynostosis) due to early closure of the bony plate of the skull. Skull surgeries may be needed to fix craniosynostosis 1
  • Seizures (particularly in young children)1

Seizures in young children can be life threatening. If your child is experiencing seizures that might be related to HPP, contact your doctor immediately.

Kidneys

  • A build-up of calcium in the kidneys6
  • Calcium build-up in the kidneys can lead to kidney disease (called nephrocalcinosis) or
    kidney failure1
  • Vomiting may occur because of the build-up of calcium1

Because people with HPP can have so many different signs and symptoms, sometimes it can be challenging for a doctor to diagnose a person with HPP.1

With HPP, daily tasks can become lifelong challenges.2

Beyond damaging bones and organs, HPP can have lasting effects on a person’s everyday life. In children, HPP can lead to slow growth and short stature, and can also delay or interfere with normal development. Children with HPP may be slow to stand and walk. Adults can also have mobility issues.1-4

Activities that may be challenging for people with HPP:

WALKING

FOR CHILDREN – Keeping up with friends or walking around school2,4

FOR ADULTS – Getting to and from work or doing daily errands and tasks2

RUNNING OR JUMPING

FOR CHILDREN – Playing with friends or playing sports2,4

FOR ADULTS – Exercising, playing sports, or keeping up with children2

STANDING

FOR CHILDREN – Standing comfortably at school or social events2

FOR ADULTS – Standing for long periods of time at work or social events2

CLIMBING STAIRS

FOR CHILDREN – Moving around their own home, at friends’ houses, or at school2,4

FOR ADULTS – Moving around their own home or in public spaces with multiple floors2

CARRYING OBJECTS

FOR CHILDREN – Carrying schoolbooks, toys, or items around the house2

FOR ADULTS – Carrying children, cleaning the house, or doing errands such as grocery shopping2

SLEEPING

FOR CHILDREN – Being awake and alert during the school day2

FOR ADULTS – Staying awake and alert during the work day or while caring for children2

HPP can impact growth and development.

Growth

  • Children with HPP may experience slow growth and short stature3,4
  • Children with HPP may weigh less than other children of the same age (failure to thrive)3,4
  • Bones of the skull may grow abnormally5
  • Bones in the arms and legs may be shorter in proportion to the rest of the body1

Development

  • Children with HPP may not be able to do basic activities as early or as easily as other children3,4
  • Children with HPP can have difficulty holding and carrying objects2
  • Children with HPP may be slow to stand and walk2