LowALP.com - Low Alkaline Phosphatase,

a Hereditary disorder of poor bone & teeth mineralization, causing osteoporosis & bone fractures - Low ALP

Alkaline Phosphatase Deficiency is also called 

'Hypophosphatasia' (HPP)

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What is Alkaline Phosphatase  &  HPP ?

Hypophosphatasia, or HPP, is an inherited metabolic bone condition that often affects the development of bones and teeth. 'Hypo' means low or deficient in latin, and alkaline phosphatase is a human enzyme that helps form bone. Thus 'hypophosphatasia' is simply 'low or deficient phosphatase' levels . This can cause serious and catastrophic illnesses in affected patients. The signs and symptoms can vary from mild cases causing only dental abnormalities, to much more severe cases that have life-threatening consequences and can cause premature death. ALP, or Alkaline Phosphatase, is an enzyme produced by the human body and it is routinely measured in routine blood tests during physical exams. It is LOW in cases of HPP, and low ALP is the hallmark sign of HPP. ALP is necessary for proper bone development, and it's deficiency in HPP usually causes premature OSTEOPOROSIS or weakening of bones and teeth, with frequent and severe bone fractures, even in children and young adults.  This is a GENETIC DISORDER, where a defect in the human gene does not allow the body to produce the proper ALP enzyme in proper amounts. When the patient has inherited one defective gene and one normal gene (a condition called 'heterozygous'), they usually have LOW ALP and their bone and teeth may form, but not normally.  They can be prone to serious bone disease and severe fractures early in life, and premature dental disease and tooth loss. It can also cause a myriad of other symptoms throughout the body.
If a patient is very unfortunate and inherits TWO abnormal genes (out of two), one from each parent, they often suffer from an extremely serious, life-threatening illness with severely abnormal bone formation even during infancy and very young age. In fact, the bones often start to form abnormally in the womb and abnormalities can be detected by sonogram before the baby is even born. In the past, this infant-form of the disease was a life-threatening and grave disease that was essentially untreatable. Babies afflicted with this form often died in infancy. When this disease was first observed and named, it's cause was not yet fully understood. The term 'hypophosphatasia' was given to this infant-form of the disease where the child inherited two abnormal genes. This should have actually been named 'Aphosphatasia' (which means 'lack of phosphatase) since the child produces little or no useful alkaline phosphatase and the child would suffer from a very severe, life-threatening condition. Hypophosphasis more accurately describes the patients who produce some of the enzyme but in deficient amounts, like those with heterozygous gene defects.
Fortunately, a new enzyme replacement treatment was recently discovered and developed and it can be life-saving and lead to dramatic and profound improvments. It is now FDA approved for use in the USA.  For more information about the enzyme replacement treatment, please visit www.strensiq.com or www.SoftBones.org .

How Common is HPP?


A study conducted in 2014 indicated that persistent alkaline phosphatase deficiency was found in approximately 1 of every 1544 adults (0.06%) in the patient population tested.  These patients likely suffer from the 'heterozygous' genetic mutation that causes osteoporosis, brittle, fragile bones, and dental disease. Thus, OVER 200,000 people in the USA may be afflicted with this condition and the vast majority are not aware of it. Several other recent studies indicate that the number of people suffering from LowALP may be much higher, perhaps 1 in every 200. 

See the full article at https://www.ncbi.nlm.nih.gov/pubmed/24443354 

It is important for physicians and health care providers to be aware of this illness because it dramatically changes the way these patients should be treated, especially for osteoporosis. These patients should often be treated the OPPOSITE way that other patients are treated with regard to bisphosphonate medications (such as Fosamax), vitamin D, and Calcium. It is important that physicians with knowledge of and experience with HPP treat patients suffering from HPP. Patients with HPP are aften advised NOT to use bisphosphonates, vitamin B-6, vitamin D, or Calcium supplements until they are properly evaluated by a doctor familiar with current recommended treatment protocols for patients with HPP and obtain specific instructions from that doctor.

There are now treatments for HPP that are specific and can reverse many of the symptoms and damage cause by HPP. These treatments can result in dramatic improvment and can tremendously improve the quality of life of patients. The medicine was recently developed and is now FDA approved in the USA. It is basically the ALP enzyme itself, in an injectable form. It replaces the deficient ALP in the patient's body. In children suffering from the infantile homozygous version, it can be a life-saving dramatic treatment. See an example here: https://www.criver.com/everystep/ 

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LowALP & HPP are recently discovered conditions and more research is urgently needed. We at LowALP.com are a Volunteer-based organization trying to help improve the treatment of these conditions for children and adults suffering with these illnesses. Our organization was formed by physicians who are interested in advancing the treatment and the research into the cause of these diseases. We are looking for people who may be help us with the research. We can help guide patients in getting more effective treatement from their doctors and we would like to learn more about how patients are being diagnosed and treated in their communities. Please share your contact email addresses with us and we will share our email newsletters with you, and keep you informed as we strive to help patients with LowALP! 

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