What Are The Most Effective Treatments For Fabry Disease?

There are various illnesses that are being inherited by some of their ancestors or relatives. Well, these illnesses may vary from simple to worse. One illness that can be inherited from our ancestors is the Fabry disease. This condition is actually a result of abnormal deposits of a certain fatty substance in the walls of the blood vessel all throughout the body. if you want to know more about this illness, feel free to give this article a read. This article will tell you about the causes, symptoms, as well as the treatments for Fabry disease. Read on to know more!

Fabry Disease: What is this condition?

The Fabry disease is a rare hereditary condition of the lipid or fat metabolism. This may result from the insufficient activity of the enzyme, a-gal A or alpha-galactosidase. Furthermore, this condition also belongs to a particular group of diseases, also known as the lysosomal storage conditions. Moreover, this enzymatic insufficiency is mainly caused by gene mutations, specifically the a-Gal A gene mutation. This instructs the cells to make the said enzyme.

The lysosomes work as the main digestive units in the cells. The enzymes in the lysosomes digest certain compounds as well as the intracellular structures. On the other hand, the a-Gal A works to digest a specific complex sugar molecule popular as glycolipids. This is by way of removing the terminal galactose sugar at the end of the glycolipids.

As stated earlier, the condition is hereditary. Thus it may run in the family. Furthermore, it may also have a lot of various symptoms, including pain in the feet, and hands and a number of rash types. When you have the condition, a specific type of fatty acid may build up in your body. it narrows down the blood vessels, which may, in turn, cause your skin, kidney, brain, heart, and nervous system to feel pain.

There are some professionals who call the illness “storage disorder.” Usually, the condition instigates in the childhood stage and may be more common in men than in women. There are various treatments for Fabry disease, which can make you feel relieved from the illness. But it is also important to have your family and friends support you.

Causes of Fabry Disease

As stated above, it is hereditary. Therefore, you may get it from your parents, or ancestors, or relatives. It is mainly passed through the genes. What’s the problem here is that the body is not able to make a particular enzyme (a-galactosidase A) that can digest fatty substances like fatty acids, waxes, and oils. If you have the disease, it is either you are born with it or it doesn’t really work properly.

Symptoms of Fabry Disease

The symptoms of the Fabry disease commonly starts during the childhood stage. This is knowing what they call the classic manifestation. The symptoms include:

  • Clouding of the corneas
  • Pain in the feet and hands
  • Reduction of the ability to sweat or hypohidrosis
  • Angiokeratoma or skin rash

The Fabry disease is common to develop over a number of years. This is since the GL-3 accumulates gradually. The symptoms may show later instead, this is popular as the later-onset manifestation.

The symptoms here may include:

Gastrointestinal conditions:

  • Diarrhea
  • Vomiting
  • Nausea

Cardiovascular conditions:

  • Enlarged heart
  • Faulty heart valves
  • Heart attack
  • Arrhythmia
  • Heart failure

Kidney conditions:

  • Renal insufficiency
  • Renal failure

Central nervous system conditions:

  • Weakness
  • Headaches
  • Numbness
  • Dizziness
  • Stroke

Psychological and emotional conditions:

  • Depression
  • Fear
  • Anxiety

Hearing conditions:

  • Ringing if the ears
  • Gradual loss of hearing

Treatments for Fabry Disease

The control or the prevention of the symptoms as well as the complications is actually the main goal of the treatments for Fabry disease. There are episodes of pain that are nearly always connected to various triggers, just like heat exposure, temperature change, fever, exercise, and exposure to the sun. the patient must learn to avoid all of these pain triggers.

Furthermore, professionals may probably recommend an enzyme replacement therapy. This will replace the enzyme, which is missing or not properly working. This is for the body to digest the fatty substances properly.

The ERT is actually the only treatment that is approved by FDA for the illness, this is beneficial in easing the pain as well as some other symptoms of the condition.

Your doctor may also recommend the following:

  • Blood pressure medications to help protect the kidneys
  • Blood thinners or some other drugs for the irregular heartbeat or some other heart conditions
  • Medicine for the stomach conditions
  • Pain reliever drugs

With the proper care, attention, and guidance from your doctor, the Fabry disease will vanish. And you will be able to rebuild your health again. As we know, the condition is hereditary, thus avoiding or preventing it can be impossible. Let us just maintain our proper health condition to be able to fight any illnesses.


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