You may not have heard of Fabry Disease before. It's a very common condition, as it's a rare genetic condition. But if you or someone in your family has been diagnosed with it, it's understandable to feel overwhelmed. But remember, while there's no cure for this disease, there are many good treatments available today that can help you live as normal a life as possible. Let's talk about these treatments today.
Main treatment methods: Enzyme Therapy
Simply put, Fabry disease is caused by a deficiency or dysfunction of an essential enzyme in our body. So the main goal of treatment is to solve this problem. There are two main ways to do this.
1. Enzyme Replacement Therapy (ERT)
This involves replacing the enzyme `alpha-galactosidase A (alpha-Gal A)` that is lacking in your body. It's like adding oil to a car when it's low on oil. This treatment is given through a vein (an `IV` infusion). It usually takes place every two weeks . The main drug currently approved for this purpose is `agalsidase beta (Fabrazyme)`.
Especially if a man is diagnosed with this disease, the doctor may recommend starting this treatment immediately, even if there are no symptoms. The reason for this is that even if you do not feel any discomfort, internal organs such as the kidneys and heart may have already begun to be damaged. So starting treatment early can prevent damage to those organs .
Women are usually less affected by Fabry disease. So your doctor may wait until you start to show symptoms or until tests show that your organs have been damaged. Some people may experience chills and fever while taking this treatment. But don't worry, your doctor will give you an antihistamine to help prevent this.
2. Oral Medication
This is a relatively new treatment. The pill is called `Migalastat (Galafold).` It works by helping your body's own enzyme `alpha-Gal A`, which is not working properly, to work better. It's much easier to take a pill than to have it injected into a vein.
But it doesn't work for everyone. This drug works in less than half of people with Fabry disease. Whether it works or not depends on certain changes (gene mutations) in your genes. So before starting this treatment, your doctor will do a genetic test.
How to control symptoms?
Fabry disease can cause a variety of complications. The most common are inflammation of the limbs, heart disease, and kidney disease. So in addition to enzyme therapy, your doctor will likely prescribe other medications to help control these symptoms.
| Symptom/Problem | The treatment usually given |
|---|---|
| Severe inflammation and pain in the hands and feet | Medications such as carbamazepine, gabapentin, or phenytoin, which are usually given for epilepsy, are given to control pain. |
| Kidney damage and high blood pressure | Blood pressure medications such as ACE inhibitors are prescribed. These help protect the kidneys while controlling blood pressure. |
| Heartbeat irregularities | Other heart medications may be needed to maintain proper heart function. |
| Digestive system problems (vomiting, diarrhea, stomach pain) | The doctor will prescribe appropriate medications based on these symptoms. |
| Skin problems (small blood vessels appearing) | A dermatologist can remove these with simple treatments. |
| Hearing problems (ringing in the ears, dizziness, hearing loss) | These difficulties can be avoided by using hearing aids . |
Tests that monitor disease status
Because Fabry disease affects your entire body, symptoms can worsen as you age. It's important to stay on top of your health. This includes regular medical checkups .
- Blood tests: These help check your red and white blood cell counts, electrolyte levels, and how your kidneys and liver are functioning.
- Urine tests: Check for protein or blood in the urine. This can be an early sign of kidney disease.
- ECG (Electrocardiogram): This records the electrical signals of the heart and checks for abnormal heartbeat patterns.
- Echocardiogram: An image of the heart is taken using sound waves. This can be used to check for problems with the heart's valves and chambers.
- Hearing test: It is a good idea to have this test done at least once a year.
- Brain imaging: This test, performed about every two years, looks for changes in the blood vessels in the brain. This can help identify early signs of stroke.
The medical team that helps you
In this type of condition, your family doctor is not the only one who will treat you. A team of specialists in various fields will help you. Depending on your symptoms, you may need to see these specialists at least once a year.
- Neurologist: For problems related to the brain and nervous system.
- Cardiologist: For heart-related problems.
- Nephrologist: For kidney-related problems.
- Ophthalmologist: For eye-related problems.
Take-Home Message
- Although Fabry Disease cannot be completely cured, it can be managed very successfully with current treatments and people can live a normal life.
- There are two main treatments: intravenous enzyme therapy (ERT) and oral tablets (Migalastat). Your doctor will decide which is best for you.
- Controlling symptoms such as pain, heart disease, and kidney disease is very important to improve quality of life.
- It is essential to undergo medical examinations on time and maintain constant contact with the specialist medical team.
- Talk openly and honestly with your doctor about your condition, treatment options, and any concerns you may have. Don't be afraid, they are always ready to help you.
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