Do you sometimes experience unbearable pain and inflammation in your hands and feet, along with small red spots on your body? When you suddenly experience symptoms that seem unrelated, it can be a big problem. Today we are talking about a condition that can cause similar symptoms, but many people in our country have not heard of it. That is Fabry Disease.
Simply put, what is Fabry Disease?
Fabry disease is a genetic condition that is inherited from our genes. It is very rare. A person with this disease has a fatty substance build up in their body cells. Imagine what would happen if the garbage collector didn't come to our house for a few days? The garbage accumulates in our house, right? That's how it is. In this disease, the enzyme that breaks down and removes this fatty substance from our cells is not produced in the body, or it doesn't work properly.
When fat accumulates in this way, our blood vessels begin to narrow. This can cause damage to the skin, kidneys, heart, brain, and nervous system . Doctors also call this a "storage disorder." These symptoms usually begin in childhood. And it is more common in men than in women.
Don't worry. Although there is no cure for this, there are good treatments available today that can help you manage your symptoms and live a normal life.
What causes Fabry disease?
This is a completely genetic disease. That means it's something you inherit from your mother or father. We need an enzyme called alpha-galactosidase A to break down things like oils, waxes, and fatty acids in our bodies. A person with Fabry disease doesn't have this enzyme, or if they do, it doesn't work properly. So, as I said before, this type of fat starts to build up inside the cells.
What are the symptoms of this disease?
The symptoms of Fabry disease can vary from person to person. Some people are very affected by these symptoms, while others are not so affected. Let's take a look at the main symptoms that can be seen.
| Symptom | Description |
|---|---|
| Pain and inflammation in the limbs | This pain increases during exercise, when you have a fever, when you are in high heat, or when you are tired. |
| Skin spots | Small, dark red or purple spots that are most commonly seen in the area between the buttocks and knees. |
| Visual impairments | Conditions such as blurred vision or cataracts. |
| Hearing difficulties | Hearing loss or constant "ringing" in the ears. |
| Decreased sweating | Sweating less than the average person sweats. |
| Digestive system problems | Stomach pain and the need to defecate immediately after eating. |
Serious complications
Fabry disease can cause more serious problems over time. This risk is especially high in men. However, women who carry the gene for this disease (carriers) can also develop symptoms. Therefore, it is very important for women to be aware of this disease and to seek medical advice regularly.
- Increased risk of heart attack or stroke .
- Severe kidney damage and kidney failure.
- High blood pressure.
- Heart failure and heart enlargement.
- Thinning of bones (Osteoporosis).
How to accurately diagnose this disease?
To be honest, it can sometimes take a long time to diagnose Fabry disease. The reason is that the symptoms are similar to those of many other diseases. As a result, some people don't realize they have Fabry disease until years after the symptoms begin. During that time, they may have seen different doctors for different symptoms, and sometimes even received incorrect diagnoses.
If someone in your family has had these symptoms and you think you are at risk, it is a good idea to talk to your doctor about genetic testing .
When you go to see the doctor, he will examine you and ask questions like these:
- How are you feeling?
- What are your symptoms?
- When did these start?
- Does anyone in your family have any of these conditions?
Based on this information, if the doctor suspects that this could be Fabry disease, he will ask you to have a blood test (to check the level of the alpha-galactosidase A enzyme I mentioned) or a DNA test .
How is it treated?
There are two main treatments for Fabry disease.
1. Enzyme Replacement Therapy (ERT): This is the most commonly used method. This involves giving the body an enzyme that is missing or not working properly through a saline solution. This is usually done in a hospital or clinic about once every two weeks. This treatment stops the accumulation of fat in the body and controls pain and other symptoms.
2. Migalastat (Galafold): This is a new drug that can be taken as a pill. It works by stabilizing the malfunctioning enzyme and improving its function.
In addition to these main treatments, your doctor may recommend other treatments depending on your symptoms.
- Painkillers for pain caused by nerve damage.
- Medicine for stomach problems.
- Blood thinners to prevent blood clots.
- Medications for high blood pressure and kidney protection.
If the disease has severely damaged the kidneys, dialysis or even a kidney transplant may be necessary.
Tests that monitor your condition
During treatment, your doctor will regularly perform various tests to monitor your condition.
| Test | Simple explanation |
|---|---|
| EKG (Electrocardiogram) | Measuring the electrical activity of the heart, checking heart rate and rhythm. |
| Echocardiogram | An ultrasound scan of the heart. This measures the health and function of the heart's parts. |
| Brain MRI | Obtaining detailed images of the brain and other organs. |
| CT scan | Taking detailed pictures of the inside of the body using X-rays. |
| Other tests | Blood, urine, thyroid tests, hearing and vision tests, lung function tests. |
Take-Home Message
- Fabry disease is a hereditary, genetic disease. It is not contagious.
- Many unrelated symptoms can occur together, such as severe pain in the limbs, red spots on the skin, and decreased sweating.
- It may take time to diagnose the disease, but blood and DNA tests can definitively confirm the disease.
- Although this disease cannot be completely cured, there are now effective treatments (such as ERT) that can control symptoms, prevent serious complications, and help people live a normal life.
- Never skip the treatments and tests your doctor gives you. Always following your doctor's instructions is very important for your future health.
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