Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth.
Adults may be essentially asymptomatic, have nonspecific symptoms such as joint pain or loss of secondary teeth, and have low bone mineral density (BMD). A history of childhood symptoms and early loss of primary teeth may have been forgotten.
The perinatal form is almost always fatal within days or weeks. Respiratory complications lead to high mortality rates in the infantile form. Life expectancy is not thought to be affected in childhood and adult forms or in odontohypophosphatasia.
Hypophosphatasia is almost always fatal when severe skeletal disease is obvious at birth. The prognosis for patients with infantile hypophosphatasia is uncertain at presentation, but clinical and skeletal deterioration14-17 or vitamin B6–responsive seizures7 indicate a lethal course.
Hypophosphatasia, or HPP, is a rare genetic disorder that affects bone and tooth development. There is no cure for the condition, but treatments are available to minimize or prevent complications.
Patients with childhood HPP typically survive, but many have chronic manifestations of disease. As previously noted, such manifestations may directly affect growth, mobility, and quality of life. Treatment therefore reflects this variation in disease.
Some adults with HPP may experience a lifetime of HPP manifestations, sometimes beginning in utero or early childhood (pediatric-onset HPP, age < 18 years) [7], whereas in others, the manifestations of HPP become apparent only later in life (adult-onset HPP, age ≥ 18 years) [5, 7].
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.
Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase, or asfotase alfa (Strensiq), was approved by the FDA in 2015 and is used as first-line therapy in infants, children, and some adults with HPP.
Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets.
Hypophosphatasia (HPP) is a chronic, progressive bone mineralization disorder caused by loss-of-function variants in the ALPL gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP).
HPP is diagnosed according to clinical symptoms, radiological findings, and biochemical test results. Although low serum alkaline phosphatase (ALP) activity is an important finding, comparison with reference values according to age and sex is necessary. For the definitive diagnosis, ALPL gene testing is recommended.
Hypophosphatasia is a rare disease that has been reported worldwide and appears to affect individuals of all ethnicities. The prevalence of severe hypophosphatasia is estimated to be 1:100,000 in a population of largely Anglo-Saxon origin.
Pain is a common symptom of hypophosphatasia (HPP). Patients are at increased risk for muscle and joint pain as a result of fractures and inflammation as well as dental pain. Treatment can also cause pain at the injection site.
Oral manifestations characteristic of various forms of hypophosphatasia can include early loss of deciduous teeth, severe dental caries, improperly formed teeth, and alveolar bone loss.
Low levels of ALP are less common. They may be a sign of a lack of zinc, malnutrition, pernicious anemia, thyroid disease, Wilson disease or hypophosphatasia, a rare genetic disease that affects bones and teeth.
A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.
Along with bone and tooth symptoms, many neurological symptoms, seizure, encephalopathy, intracranial hypertension, mental retardation, deafness, and growth hormone deficiency (GHD), are frequently found in HPP patients.
Vitamin D and calcium supplements can help manage HPP, but they are not always necessary. People with HPP should consume normal amounts of vitamin D and calcium, just like others without the condition. The daily recommendation for calcium is 1,000 milligrams (mg) per day.
Focus on correcting the nutritional deficiency that is lowering your alkaline phosphatase levels. Get enough protein, B vitamins, zinc, and magnesium.
The diet containing phosphorus, healthy fats, Zn, vitamin B12 and vitamin A can be started to increase alkaline phosphatase level.
Some good options include milk thistle, NAC, taurine, B vitamins, and vitamin C. Additionally, get enough sun, exercise, omega-3 fatty acids, and coffee. Reduce alcohol and stop smoking — they both lower alkaline phosphatase levels and support good health.
Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation.