Quick answers to some common questions about hypophosphatasia (HPP)
HPP is an inherited rare metabolic disease that can affect the whole body due to low activity of an enzyme called alkaline phosphatase (ALP).
ALP is an enzyme in the body that is crucial for the development of strong, healthy bones, muscle and nervous function, and many other biological processes throughout the body. When a person has persistently low ALP enzymatic activity, this can contribute to many of the symptoms people with hypophosphatasia experience.
It is important for doctors to observe ALP levels over time, as persistently low ALP may be a sign of HPP.
It is important for doctors to observe ALP levels over time, as persistently low ALP may be a sign of HPP.
An HPP diagnosis may be made following evaluation of a range of symptoms and blood test results showing persistently low ALP levels. Previous ALP results can also provide useful clues, along with other tests such as X-rays and vitamin B6 levels.
In adults, patients with HPP may be misdiagnosed as having osteoporosis, fibromylagia, arthritis, or pseudogout. In children, symptoms in patients with HPP may be mistaken for other skeletal dysplasias like osteogenesis imperfecta or X-linked hypophosphatemia.
Certain treatments for these conditions can be unsuitable for patients with HPP, so it is important that a HPP diagnosis is considered before treatment for these conditions is initiated.
Certain treatments for these conditions can be unsuitable for patients with HPP, so it is important that a HPP diagnosis is considered before treatment for these conditions is initiated.
Symptoms of HPP can vary significantly. In children, common signs include growth challenges, bone fractures, and dental complications such as early tooth loss (with root intact). In adults, dental complications are also common, as well as muscle and bone pain, muscle weakness, and recurrent or poorly-healing fractures.
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.