What is Odontohypophosphatasia?
Disease definition. A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.
How do I know if I have hypophosphatasia?
Affected children may have short stature with bowed legs or knock knees , enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia.
What is the difference between hypophosphatasia and hypophosphatemia?
In hypophosphatasia, mineralization is disrupted affecting a number of tissues, including bone and teeth. With X-linked hypophosphatemia, an inability of the cells in the body to properly process phosphate causes circulating levels of phosphate to be low, resulting in problems with bone and tooth development.
How common is HPP?
Affected Populations In Canada, severe HPP is estimated to occur in approximately 1 in 100,000 live births. The overall incidence and prevalence of the various forms of HPP is poorly understood or unknown. Milder cases can go undiagnosed or misdiagnosed.
Is there a cure for hypophosphatasia?
Treatment and Medication Options for Hypophosphatasia Forteo (teriparatide), a man-made form of parathyroid hormone used to treat osteoporosis, has been shown to help fracture healing in adults with HPP, according to a review published in August 2019 in Therapeutic Advances in Musculoskeletal Disease.
What type of doctor treats hypophosphatasia?
Patients may initially present to orthopedists, neurologists, nephrologists, neonatologists, pulmonologists, dentists, endocrinologists, rheumatologists and others before an accurate diagnosis is obtained, making it important for many specialists to become familiar with key hypophosphatasia warning signs and …
What are the symptoms of hypophosphatasia in adults?
Symptoms of adult HPP include:
- Softening of the bones.
- Frequent fractures of the foot and thigh bones.
- Premature loss of teeth.
- Joint pain and inflammation.
How does hypophosphatasia affect the body?
Hypophosphatasia (HPP) is an inherited disorder affecting the development of bones and teeth. This happens when the mineralization process is disrupted leading to the signs and symptoms of HPP, including failure to thrive; soft, weak bones; and premature tooth loss.
What causes hypophosphatemia?
Hypophosphatemia is most often caused by long-term, relatively low phosphate intake in the setting of a sudden increase in intracellular phosphate requirements such as occurs with refeeding. Intestinal malabsorption can contribute to inadequate phosphate intake, especially if coupled with a poor diet.
Is HPP fatal?
Lethal perinatal HPP results in death, either in the womb or by stillbirth. Odontohypophosphatasia, which only affects the teeth, is the mildest form of the condition.
What kind of doctor treats hypophosphatasia?
How does someone get hypophosphatasia?
Hypophosphatasia (HPP), also called Rathbun disease, is a rare condition you inherit from your parents. It keeps your bones and teeth from developing the right way, making them more likely to form incorrectly or to break.