Do you feel like your limbs are just burning or tingling? Do you sometimes feel extremely tired even after doing small tasks? While these may seem like normal things, sometimes there could be a rare genetic condition behind this, such as Fabry Disease. You may not have even heard of this name. But it is very important to know about it. Let's talk about it simply today.
Simply put, what is Fabry Disease?
Fabry disease is a genetic condition that runs in our families. It is very rare. Simply put, a person with this disease does not produce an enzyme called alpha-galactosidase A (alpha-GAL for short) properly.
Now you may be wondering what this enzyme is. An enzyme is a type of protein that helps in various chemical processes in our body. The main function of this alpha-GAL enzyme is to break down a type of fat called sphingolipids in our body, that is, to digest it and remove it from the body.
Imagine, what happens if the garbage collector doesn't come to our house for days? Trash accumulates all over the house, right? That's how it is. When the alpha-GAL enzyme is missing, a type of fat called sphingolipids starts to accumulate in our blood vessels and tissues. This accumulation can damage our heart, kidneys, brain, nervous system, and skin. 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.
| Disease type (Type) | Description |
|---|---|
| Classic type | In this type, symptoms begin in childhood or adolescence. Sometimes, symptoms such as swelling of the hands and feet can begin as early as 2 years of age. Symptoms gradually worsen over time. |
| Late-onset/atypical type | People with this type may not develop any symptoms until their 30s or later. Sometimes the disease is first discovered after a serious condition, such as kidney failure or heart disease, develops. |
How does Fabry disease develop? Is it hereditary?
Yes, this is a completely hereditary disease. Our genes are located on things called chromosomes. The defective gene that causes this disease is located on the X chromosome .
Women have two X chromosomes (XX) while men have one X chromosome and one Y chromosome (XY). This difference also affects how the disease is passed from generation to generation.
Let's understand simply:
- If the father has Fabry disease:
- All of his daughters inherit this defective X chromosome. This means that all of his daughters have the potential to develop this disease.
- But because sons inherit the Y chromosome from their fathers, sons do not inherit this disease from their fathers.
- If the mother has Fabry disease:
- Because the mother has two X chromosomes, each of her children (either a daughter or a son) has a 50% chance of inheriting the defective X chromosome. This means that some children may have the disease, and some may not.
What are the symptoms of Fabry disease?
Symptoms can vary from person to person. Men generally experience more severe symptoms than women. Some women may have very mild or no symptoms at all.
These are the common symptoms:
- Numbness, tingling, or severe pain in the hands and feet .
- Excessive pain during exercise or physical activity.
- Intolerance to cold or heat.
- Decreased sweating (hypohidrosis) or no sweating at all (anhidrosis).
- Stomach problems such as stomach pain, diarrhea, and constipation.
- Dizziness.
- Symptoms similar to those of a flu, such as fever, body aches, and fatigue.
- Hearing loss or ringing in the ears (tinnitus).
- Small red-purple bumps (angiokeratomas) that appear on the skin of the chest, back, and genital area.
- Swelling (edema) of the legs, ankles, and feet.
- Increased protein levels in the urine (proteinuria).
- A special pattern (cornea verticillata) develops inside the eye. This does not affect vision. It can only be seen with a special eye exam (slit lamp exam).
Dangerous complications that can occur due to this disease
The aforementioned type of fat (sphingolipids) can accumulate in the body over many years and can damage our major organs. This can lead to complications that can even be life-threatening.
- Heart disease: irregular heartbeat (arrhythmia), heart attack, enlarged heart, and heart failure.
- Kidney failure: Over time, dialysis or even a kidney transplant may be necessary.
- Strokes: A stroke or transient ischemic attack (TIA) can occur due to blockage of blood vessels to the brain.
- Nerve damage (peripheral neuropathy).
How to diagnose the disease?
If you have symptoms like these, your doctor may suspect this disease and refer you for several tests.
| Test | Description |
|---|---|
| Enzyme assay | This is a blood test. It measures the activity of the alpha-GAL enzyme in your blood. This test is very accurate for men, but not so accurate for women. |
| Genetic testing | This is the most definitive test. A DNA test can definitively determine whether there is a mutation in the GLA gene that causes the disease. |
What are the treatments?
There is no cure for Fabry disease yet. But don't give up hope. There are now very effective treatments that can control symptoms, slow the accumulation of fat in the body, and prevent serious complications.
There are two main treatment methods:
1. Enzyme Replacement Therapy (ERT)
This involves giving you a lab-made version of the alpha-GAL enzyme, which your body doesn't make. This medication is given as an IV infusion (like a saline solution) into a vein every two weeks. This treatment stops the accumulation of fat in your body.
2. Oral Chaperone Therapy
This is a pill that you take. This medicine works by repairing the faulty alpha-GAL enzyme in your body and making it work again. However, this treatment does not work for everyone. It depends on the nature of your genetic mutation. Your doctor will decide if this is right for you.
In addition to these main treatments, separate medications may be given for pain, stomach upset, and other symptoms.
When should you see a doctor?
If you have been diagnosed with Fabry disease, you should contact your doctor immediately if you experience any of the following symptoms:
- Symptoms of a heart attack such as chest pain, shortness of breath, and irregular heartbeat (if this happens, go to the hospital's Emergency Department (ETU) immediately).
- Excessive swelling.
- Signs of paralysis such as extreme dizziness, changes in vision, and difficulty speaking (go to the ETU immediately in this case as well).
- Sudden loss of hearing.
- Severe stomach pain or bloating.
It's normal to feel scared and anxious when you're diagnosed with Fabry disease. You may have concerns about your future and your children. However, effective treatments are now available and new research is on the horizon. By following your treatment plan closely and working closely with your doctor, you can manage your symptoms and prevent long-term damage.
Take-Home Message
- Fabry disease is a rare genetic (inherited) condition.
- The accumulation of a type of fat in the body can damage organs such as the heart, kidneys, and brain.
- Symptoms such as swelling of the limbs, extreme fatigue, skin rashes, and lack of sweating are the main ones.
- Although there is no complete cure for this, enzyme therapy and other medications can control the disease and extend life.
- If you or someone in your family has these symptoms, it is very important to seek medical advice immediately.
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න