Do you sometimes feel like your bones are a little weaker and more fragile than others? Do you break your bones with even the slightest thing? Or do your little one's baby teeth fall out prematurely? Today we're going to talk about a condition that we don't talk about much, but is very important to be aware of. This is called Hypophosphatasia, or HPP for short.
What exactly is Hypophosphatasia (HPP)?
Simply put, Hypophosphatasia (HPP) is a rare, inherited (genetic) condition that affects the way our bones and teeth develop. In order for our bones to be strong and our teeth to help us chew and chew food properly, they need minerals like calcium and phosphorus to be added to them. This process is called ``mineralization''.
In HPP, this process called `mineralization` does not happen properly. As a result, bones and teeth are not strong enough, but become soft and easily brittle. While this condition may only affect a few people, it can be a serious, life-threatening condition for others.
What causes HPP?
This is a bit of a scientific matter, but let's understand it simply. Imagine that our body is like a big factory. Everything has to be in order. To make bones strong, we need the minerals calcium and phosphorus that we mentioned earlier.
But too much of this `mineralization` process is not good either. For example, it is not good for these minerals to accumulate in the blood. So we have chemicals in our bodies to control this.
But bones and teeth need to have the right amount of these minerals. There is a special enzyme in our body that helps with this important task. It is called alkaline phosphatase (ALP) . This enzyme deactivates the chemicals in the bones and teeth that stop the accumulation of those minerals. Then the necessary minerals are accumulated in the bones and teeth and they become strong.
People with HPP have a mutation in the gene called `ALPL`, which prevents the ALP enzyme from being produced properly. This causes the chemicals that prevent the accumulation of minerals to accumulate in the bones, preventing the bones from absorbing the calcium and phosphorus they need. As a result, the bones become soft and weak instead of strong.
What are the symptoms of HPP?
The symptoms of HPP vary greatly. They depend on how much ALP enzyme is in the body. As the enzyme levels decrease, the symptoms usually become more severe. The condition can appear at any time from birth to adulthood.
When some adults are diagnosed with HPP, they remember that they had similar symptoms since childhood, but it was not properly diagnosed at the time.
Let's see what the main symptoms are.
| Symptom | Description |
|---|---|
| Dental problems | Loss of baby teeth before the age of 5 or unexpected loss of teeth at any age. (This is the most common form - the "odonto" form) |
| Changes in bones | Bowed arms and legs, short stature, soft, weak or deformed bones, wide wrist and ankle joints. |
| Infant problems | Failure to gain or grow properly, premature fusion of the skull bones (which can lead to increased pressure on the brain), muscle weakness (hypotonia) that makes babies look 'fluffy', and breathing difficulties. |
| Fractures | Bones break easily at a young age, especially in the feet and legs, and they take a long time to heal. |
| Other features | Pain in bones and joints, difficulty walking, increased calcium levels in the blood (may cause vomiting, constipation, kidney problems), seizures, sudden severe arthritis. |
How to diagnose this disease?
If you or your child has these symptoms, your doctor will ask about your family medical history and perform a complete physical examination. In addition, they will order X-rays and blood tests.
The most important test here is to measure the level of the ALP enzyme in the blood. This level is usually low in HPP.
Sometimes, a genetic test can be done to confirm whether you have HPP. However, this test is not available everywhere and can be expensive. However, in most cases, your doctor can diagnose the disease with other tests.
Because this is a rare disease, it can sometimes take a while to get a diagnosis. So if you or your child has these symptoms, it's important to be well-informed and talk openly with your doctor .
What are the treatments for HPP?
Fortunately, there are now treatments for HPP. For HPP, especially those diagnosed in infancy or childhood, a drug called asfotase alfa (Strensiq) is used. This is an injection given under the skin. It works by replacing the ALP enzyme that is lacking in the body (enzyme replacement therapy).
In addition to this main treatment, several other things are done to control symptoms.
- Giving painkillers (NSAIDs) such as paracetamol or ibuprofen for bone or joint pain.
- If the pressure in the skull is high, surgery to reduce it.
- Giving vitamin B6 to control seizures in some people.
- Diet control or medication to control blood calcium levels.
- Always take care of your dental health and seek dental advice.
- Physical therapy strengthens muscles and improves movement.
- Inserting metal rods into frequently broken bones.
- One thing to keep in mind in particular is that bisphosphonate-type drugs, which are used to treat other bone diseases, such as osteoporosis, can worsen HPP. Therefore, they should be avoided.
These treatments can be expensive, so it's important to talk to your doctor about the pros, cons, and costs of the treatments.
Getting support when living with HPP
Fractures, pain, and other symptoms can make everyday life difficult. Living with a rare disease means being well-informed about your condition and speaking up for yourself. This may apply to you or your child.
Understand and respect your physical limitations. Rest when you need to. Treating HPP usually requires a multidisciplinary team. This may include a pediatrician, orthopedic surgeon, dentist, and physical therapist.
There are other common diseases that have similar symptoms to HPP. So if you have doubts about the diagnosis your doctor gives, don't be afraid to seek a second opinion from another specialist. It's your right.
Although treatment may take years, symptoms can be significantly controlled over time.
Take-Home Message
- Hypophosphatasia (HPP) is a rare, hereditary disease that weakens bones and teeth.
- Symptoms can vary greatly from person to person, ranging from premature tooth loss in young children to serious bone deformities.
- A blood test to check for low levels of the ALP enzyme in the blood is very important for diagnosis.
- Currently, there are effective treatments that control symptoms, including enzyme replacement therapy.
- If you or your child has these symptoms, don't panic and talk to your doctor right away. Getting the right diagnosis and treatment is very important.
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න