We don't pay much attention to some of the symptoms that occur in our bodies, do we? We think of it as a minor ache, a small skin rash, or just plain tiredness. But sometimes, behind these seemingly normal symptoms, there may be a rare and serious medical condition. Today we are going to talk about one such genetic disease, Fabry Disease. Although this is a rare disease, it can be very important for you and your family to be aware of it.
What is Fabry Disease?
Simply put, Fabry disease is a genetic disease in which a type of fatty substance in our body's cells cannot be broken down properly, causing it to build up in our organs. When this fat builds up, it can damage the most important organs in our body, such as the kidneys, heart, and nervous system.
The peculiarity of this disease is that the symptoms vary from person to person . For some people, the symptoms are very subtle, barely noticeable, while for others they can be severe enough to affect their lives. Also, because these symptoms are similar to those of other common diseases, it is sometimes possible to diagnose the disease late.
What are the common symptoms?
A person with Fabry disease can have several symptoms at the same time. Let's take a look at the main and most common of these.
| Symptom | How does this feel? |
|---|---|
| Pain in the hands and feet | Burning, numbness, pins and needles , or sharp pain in the palms and soles of the hands. Sometimes this pain can be unbearable. |
| Skin spots | It often appears as a cluster of small, dark red or purple spots in the area between the buttocks and the knees. These are usually painless. |
| Decreased sweating | Sweating less than usual, or in some people not sweating at all, making it difficult to tolerate hot weather or exercise. |
| Frequent fever | Frequent feeling of fever for no particular reason. |
| Swelling of the legs | Swelling, especially in the lower legs, ankles, and feet. This can be a sign that the kidneys are being affected. |
| Extreme fatigue | Feeling of extreme fatigue and weakness throughout the day that does not go away even after a good night's sleep or rest. |
| Digestive system problems | Symptoms include stomach pain immediately after eating, feeling full, frequent bowel movements, nausea, and vomiting. |
Is there a difference in the way it affects women and men?
Yes, absolutely. Because of the genetic nature of the disease, men are more likely to get it . Also, the symptoms are more pronounced and severe in men.
Even if women get Fabry disease, many may not experience any symptoms or have very mild symptoms. However, this does not mean that women are not affected by the disease. Some women may also experience severe symptoms, especially nerve pain. Therefore, it is not a good idea to ignore the symptoms because they are mild.
How does this affect different organs?
The accumulation of fat in Fabry disease damages various parts of the body. Let's see how.
Kidneys
One of the most serious and dangerous complications of this disease is kidney failure. Fatty deposits in the blood vessels narrow the blood vessels that supply the kidneys, causing damage to the kidneys. Symptoms may include protein or blood in the urine, and swelling of the legs. In severe cases, lifelong dialysis or a kidney transplant may be necessary.
Nervous system
Many people first experience Fabry disease with nerve pain. The main symptoms are burning, numbness, and unbearable pain, especially in the hands and feet. These painful conditions can last for hours or even days. This pain can also be accompanied by body aches, fever, and extreme fatigue.
Heart
Heart disease is also common. It can cause irregular heartbeats, thickening of the heart muscle, or problems with the heart valves (such as mitral insufficiency). These conditions can also increase the risk of serious complications such as stroke.
Skin
The main symptom is the dark red spots (angiokeratomas) that we discussed earlier. In boys, these are most commonly seen on the hands, knees, elbows, and the area between the hips and knees. Women are less likely to develop these spots.
Eyes
This is a very specific symptom. White, haze-like streaks or ring-like patterns (corneal whorls) may appear on the surface of the eye near the cornea. Although these do not usually interfere with vision, they are very important clues for a doctor to diagnose Fabry disease.
These types of eye changes are rarely seen in other diseases, so having this feature is a great help in diagnosing Fabry disease.
Ears
Some people may experience a ringing in the ears, or ``Tinnitus''. Hearing loss may also occur gradually over time or suddenly.
Lungs and digestive system
Respiratory symptoms such as a 'whooshing' sound when breathing, shortness of breath, and frequent coughing may occur. Also, about half of women experience symptoms similar to Irritable Bowel Syndrome (IBS) (stomach pain, bloating).
Are there two types of the disease? (Type 1 and Type 2)
Yes. Fabry disease is mainly divided into two types.
1. Classic type (Type 1): This usually begins in childhood. Inflammation and pain in the limbs may be one of the first symptoms during childhood.
2. Late-onset type (Type 2): In this type, childhood and adolescence are normal. Symptoms begin to appear after the age of 20 or later.
Regardless of the type, the disease tends to worsen with age. The main reason for this is the increase in body fat deposits over time.
You may think that this is a rare disease and that it is unlikely to happen to me. But if you or someone in your family has been experiencing several of the symptoms mentioned in this article for a long time, please do not ignore it. The best thing to do is to see a doctor as soon as possible and talk about this. He will do the necessary tests and find out exactly what is causing these symptoms.
Take-Home Message
- Fabry Disease is a rare genetic disease that causes fat to accumulate in the body's organs.
- The main symptoms are inflammation of the hands and feet, numbness, dark red spots on the skin, decreased sweating, and extreme fatigue.
- This disease can seriously damage major organs such as the kidneys, heart, and nervous system.
- Symptoms are more common and severe in men, while women may have mild or no symptoms.
- If you or someone in your family has one or more of the symptoms mentioned in this article and they persist for a long time, please consult your doctor immediately for advice.
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