What is Gaucher Disease? Let's understand it simply

Have you ever heard of Gaucher Disease? Probably not. Because it is a rare disease, it is not a common disease in our country. But since it is a genetic disease that is passed down from generation to generation, it is very important to be aware of it. This disease can cause various symptoms, from weak bones to turning blue even with a small bruise.

Simply put, what is Gaucher disease?

Okay, let's put it this way. There is a special enzyme in our body that helps break down and eliminate certain types of fats. In the body of a person with Gaucher disease, this enzyme does not work properly. Then what happens is that those types of fats are deposited in different parts of the body, especially in the liver, spleen, and bone marrow . When fat accumulates in this way, various health problems begin to arise.

There is currently no cure for this disease, but depending on the type of Gaucher disease you have, there are very good treatments to control the symptoms.

There are three main types of Gaucher disease:

1. Type 1: This is the most common type. It does not affect the nervous system. Symptoms may be very mild for some people, but can be more severe for others. Sometimes there may be no symptoms at all. There are good treatments for this type.

2. Type 2 and Type 3: Both of these types are more serious than type 1 because they affect the central nervous system, which is the brain and spinal cord. Babies with type 2 usually don't live past the age of 2. Type 3 also damages the brain, but symptoms appear a little later in childhood.

What causes Gaucher disease?

This is not a disease that can be transmitted from person to person like a cold. This is a completely genetic condition that is passed down from generation to generation. It is caused by a defect in a gene called GBA.

This disease is most common among people of Jewish descent (Ashkenazi Jews) in Eastern and Central Europe.

What are the symptoms of this disease?

Symptoms can vary greatly from person to person. They also vary depending on the type of disease. Let's take a look at the symptoms associated with each type.

How to diagnose the disease?

When you go to see a doctor with these symptoms, he or she may ask you questions like:

• When did you first notice the symptoms?
• What is your family's ethnic background?
• Has anyone in previous generations of the family had health problems like this?
• Have any of your relatives or families had children under the age of 2 die?

If your doctor suspects that you have Gaucher disease, they can confirm it with a blood test or saliva test . They will also need to have regular tests to monitor the progress of the disease.

In addition, an MRI scan may be done to check for liver or spleen swelling, and a bone density test may be done to check bone density.

What are the treatments for Gaucher disease?

Treatment options depend on the type of disease and the severity of symptoms. If symptoms are very mild, no treatment may be necessary.

Main treatment methods

• Enzyme Replacement Therapy (ERT): This is the main treatment for some people with type 1 and type 3 diabetes. This involves giving the body an enzyme that is deficient. This medication is given intravenously (IV) about once every two weeks. It helps reduce anemia, strengthen bones, and heal an enlarged spleen and liver. However, this treatment is not very effective for problems with the nervous system that affect the brain. `Imiglucerase (Cerezyme)` and `Velaglucerase alfa (VPRIV)` are drugs of this type.

• Substrate Reduction Therapy (SRT): These are pills that control the production of the fat that builds up in the body in Gaucher disease. Eliglustat (Cerdelga) and Miglustat (Zavesca) are such drugs. They are given to type 1 adult patients who are not suitable for ERT treatment.

Other supportive treatments

• Blood transfusions for anemia
• Medicines to strengthen bones and reduce pain
• Joint replacement surgery to improve mobility
• Surgery to remove an enlarged spleen
• Pain control medications
• Taking additional nutrients such as vitamin D and calcium if recommended by your doctor

Living with the disease and what to expect

Because this disease is different for each person, you need to work closely with your doctor to find the treatment plan that's right for you. Treatment can help you live better and extend your life.

A child with Gaucher disease may grow a little slower than other children. They may also have delayed puberty. Depending on the symptoms, you may need to avoid activities such as contact sports. Some people may have to make an extra effort to stay active because of severe pain and fatigue.