What is Fabry Disease? Let's learn about this rare condition in simple terms

Do you sometimes get unbearable burning sensations on your palms and soles for no reason? Or do you feel very tired and not sweaty, and have small red spots on your skin? You may think these are normal things. But these could also be symptoms of a rare genetic condition called Fabry Disease , which we haven't heard much about. Don't worry, we will talk about what this name is, why it occurs, what are the symptoms, and whether there is a treatment, in this article today.

What exactly is Fabry Disease?

Simply put, Fabry disease is a condition caused by a genetic defect in our body. What happens is that the production of an essential enzyme in our body is reduced or completely absent. The name of this enzyme is alpha-galactosidase A , or `(alpha-GAL)` for short.

Imagine that our bodies have a system that is like a garbage disposal company. This enzyme called `alpha-GAL` is the smartest employee in that company. Its job is to properly clean and break down sphingolipids, a type of fat (more precisely, a fat-like substance) that is produced inside our cells.

Now, in the body of a person with Fabry disease, this clever worker, the `alpha-GAL` enzyme, is not in sufficient quantity. What happens then? Those garbage-like fats called `sphingolipids` start to accumulate in the body. Just like a pile of garbage builds up in a house if the garbage is not removed. This type of fat mainly accumulates in our blood vessels, heart, kidneys, brain, nervous system and skin. When fat accumulates like this over time, those organs start to be damaged. This belongs to a group of diseases called lysosomal storage disorders .

What are the main types of this disease?

Fabry disease can be divided into two main types, depending on the age at which symptoms begin to appear.

Is this disease common? Who gets it?

Fabry disease is a very rare disease. According to statistics, the classic form occurs in about one in 40,000 males. However, the late-onset form is slightly more common. It can affect between one in 1,500 and 4,000 males.

It is difficult to say exactly how prevalent this disease is among women, as some women have no symptoms at all, or only mild ones, and so they live without being diagnosed with the disease.

This is how it comes from generations.

This is a genetic disease, meaning it is passed down from parents to children. The defective gene that causes this is on our X chromosome . Let's see how this runs in families.

• If the father has the disease: A father with Fabry disease passes his X chromosome to all of his daughters . This means that all of his daughters will inherit the gene mutation for the disease. But sons are not at risk . This is because sons receive the Y chromosome from their father, not the X chromosome.
• If the mother has the disease: A mother with Fabry disease has a 50% chance of passing on the defective X chromosome to each of her children (either a daughter or a son) . It's like flipping a coin. One child may inherit the disease, and the other may not.

What are the symptoms of Fabry disease?

Symptoms can vary greatly from person to person. Some people have very mild symptoms, while others may have severe symptoms. Men generally have more severe symptoms than women.

These are some of the commonly seen symptoms:

• Pain in the hands and feet: The hands and feet may feel numb, tingling, or burning. This pain may be worse during periods of exercise.
• Sensitivity to temperature: Inability to tolerate extreme heat or extreme cold.
• Decreased sweating: Some people sweat very little (hypohidrosis) . Others don't sweat at all (anhidrosis) .
• Skin changes: Small, raised, dark red or purple spots appear on areas such as the chest, back, and genital area. These are called angiokeratoma .
• Eye changes: A special pattern develops on the cornea of ​​the eye. This is called cornea verticillata . However, this does not affect vision in any way. Only a doctor can see this with a special device (slit lamp).
• Digestive system problems: Problems such as stomach pain, bloating, diarrhea, or constipation often occur.
• Common symptoms: Fatigue, dizziness, fever, and body aches (like a flu) may occur.
• Hearing problems: Hearing loss or ringing in the ears (tinnitus) may occur.
• Effects on the kidneys: Increased protein levels in the urine (proteinuria) .
• Swelling: Legs, ankles, and feet swell (edema) .

What are the dangerous complications that can occur due to this disease?

Over many years, the accumulation of these fats called `sphingolipids` in the body can cause serious damage to blood vessels and organs. This can lead to complications that can even be life-threatening.

The main complications are:

• Heart disease: Conditions such as irregular heartbeat (arrhythmia) , heart attacks, enlarged heart, and heart failure .
• Kidney failure: Damage to the kidneys can lead to complete loss of their function.
• Nerve problems: Damage to the peripheral nerves (peripheral neuropathy) can cause increased pain and numbness in the limbs.
• Strokes: Blockage of blood vessels to the brain can cause paralysis or transient ischemic attacks (TIA) .

How to diagnose the disease? (Diagnosis)

If your doctor suspects Fabry disease, he or she will order several tests to confirm the diagnosis.

• Enzyme assay:This is a blood test. This measures the level of the `alpha-GAL` enzyme in your blood. If this level is less than 1%, the disease is suspected. However, this test is only reliable for men. This is not suitable for women, as their enzyme levels can fluctuate during normal times.
• Genetic testing: This is the best way to confirm the disease. DNA sequencing technology can accurately detect whether there is a mutation, or defect, in the GLA gene , which instructs the production of the `alpha-GAL` enzyme.
• Newborn screenings: In some countries, newborns are screened for these diseases.

What are the treatments for Fabry disease?

There is no cure for Fabry disease. However, there are effective treatments that can help control symptoms and slow the build-up of harmful fats in the body. The main goal of these treatments is to prevent heart disease, kidney disease, and other serious complications.

In addition to these main treatments, separate medications are given for pain and stomach problems. Scientists are also developing new treatments using genetic engineering technology.

What will life be like with this disease? (Outlook)

Fabry disease is a progressive disease. This means that the risk of symptoms and complications increases with age. The disease can shorten life expectancy. On average, men with the classic form live into their late 50s and women into their 70s.

But the most important thing is that by getting proper treatment, especially by taking care of the health of the heart and kidneys, you can add many more years to your life.

Can this disease be prevented from spreading to family members?

Since this is a genetic disease, if someone in your family has the gene mutation related to this disease, there is a risk that your children will inherit it. Therefore, if you or someone in your family has this disease, it is very important to meet and talk to a genetic counselor .

Such a specialist can explain the likelihood that your children will inherit the gene. They can also talk about the options available to you if you are planning to have children. For example, there is a procedure called Preimplantation Genetic Diagnosis (PGD) . This procedure tests embryos before they are transferred to the mother during In Vitro Fertilization (IVF) to select healthy embryos that do not have the defective gene.

When you should see a doctor immediately

If you have been diagnosed with Fabry disease and experience any of the following symptoms, see your doctor immediately or go to the nearest hospital Emergency Department (ETU).

• Chest pain, irregular heartbeat, difficulty breathing (these may be signs of a heart attack).
• Excessive swelling or fluid retention in the body.
• Severe dizziness, vision problems, changes in speech (these could be signs of a stroke).
• Sudden loss of hearing.
• Severe stomach cramps or diarrhea.

Important questions to ask your doctor

When you are diagnosed with this disease, it is normal to have many questions. Don't forget to ask these questions when you see your doctor.

• How did I get Fabry disease?
• What type of Fabry disease do I have?
• What treatment is best for me?
• What are the risks and side effects of those treatments?
• Is my family at risk of developing this disease? Should we get genetic testing?
• What medical treatments and tests should I continue to receive?
• What symptoms of complications should I be especially concerned about?

It's normal to feel sad and anxious when you're diagnosed with Fabry disease. You may be worried about the future and your children. But remember, there are now very effective treatments to manage this disease. And there is a lot of research underway that gives us hope for the future. By following your treatment plan closely and working closely with your doctor, you can manage your symptoms, prevent long-term damage, and live a successful life.