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Fabry’s Disease: Overview of Fabry Disease

Fabry’s disease is a very rare genetic disorder that is characterized with the lack of an enzyme known as alpha galactosidase A. The effects of this disease cuts across every organ in the body. It rapidly progresses, and It can be very life threatening if allowed to get to the late stage.

People who have been diagnosed to have this disease have been seen to have a damaged gene which will lead to the loss of that very important enzyme known as Alpha galactosidase A. This disease affects all the parts of the body including their respective organs. This disease is classified as a disorder in lysosomal storage.

Lysosomes are an important part of the cell organelles that is responsible for the metabolism of certain fatty acids that is needed by the cells of the body for body development.

Once there is a disorder in the way lysosome is being stored, enzymes won’t be properly broken down and also aid in metabolizing some certain fatty acids that is needed for the growth and development of the body.

Once this begins to occur over a period of time, then these fatty acids that weren’t digested and metabolized will then gather themselves together and accumulate. This overloading of fatty acids will then later cause severe impairment to the cells ability to function normally.

Fabry’s disease is caused as a result of the mutation of a gene and it mostly affects the males much more than the females. For females, they can only get this disease if it is inherited.

This disease is considered a progressive one and it gets to the peak when the patient approaches the age range of about 30 – 45 years. At this age, the disease may have progressed towards the kidney, the heart or the brain or even to the three of them at once.

The main known cause of Fabry’s disease is genetic disorder that is caused by either gene mutation or a partial change in a person’s DNA. The defective chromosome however in this case is the X-chromosome.

Normally, in a human being, there are specifically two types of chromosomes i.e. the X-chromosome and the Y-chromosome. In a female, there is a combination of XX chromosome while for males, they have the XY chromosome.

When a male inherits the defective X chromosome (the chromosome with the defective gene), he would be at risk of developing Fabry’s disease. You may be wondering why the females don’t usually get this disease since they also have the X-chromosome.

If a female should get this defective chromosome as well, they have another X-chromosome which is normal and can likewise cover up for the aberrations found on the defective X-chromosome. They will therefore at this stage become a carrier of the disease.

When there is a gene mutation that results in the deficiency of the enzyme alpha galactosidase A, this mutation or defect will prevent the adequate production of this enzyme and this will cause a massive buildup of fat called GL-3 (globotriaosylceramide) in the body which is the major symptom of Fabry’s disease.

This disease is gotten as a result of genetic inheritance. Females only tend to be carriers but then males are mostly affected hence it is called a X-linked chromosomal or genetic disease.

When a mother carries this defective gene, her children (both the males and females) have the tendencies of getting this disease equally. If it is the father that is carrying this defective gene, the female child will be the one to get it because the father will only contribute the X-chromosome that he carries to his female daughter and then contribute the Y-chromosome to the son.

The son that gets the Y-chromosome won’t be affected but then the female that gets the defective X chromosome will become a carrier of this disease. There are two different stages of the Fabry’s disease and they are;

  1. The classic or type 1 Fabry’s disease
  2. The later onset Fabry’s disease or typically known as the type 2 Fabry’s disease.

The classic Fabry’s disease usually starts at a very tender age and research has shown that it affects 1 in every 40 males while the type 2 Fabry’s disease occur much more frequently in males than the type 1. There are symptoms to be expected at each stage of this disease. For the type 1 Fabry’s disease, the following symptoms are to be expected at the early stages:

Tingling pain and/or severe burning sensation in both the hands and the feet: When a male child is affected by this defective chromosomal aberration, this symptom is to be expected very early in the child’s life most especially if the child is between the ages of 2-8 years old.

Female carriers too would most likely experience this symptom later in life; almost when they are close to adolescence and puberty. Fabry’s crisis which is characterized by episodes and stages of intense pain lasting from a range of minutes to several days is usually experienced by the patient.

  1. Inability to produce sweat due to the compression of the sweat glands by this fat accumulation is seen. However, this is majorly seen to be experienced by males much more than the females.
  2. Skin rashes all over a specific part of the body: Angiokeratoma is a common feature of this disease. Angiokeratoma is a reddish skin rash that is usually found in between the belly button or navel and the two knees only.
  3. Abnormal cornea: Due to this aberration, the patient is to experience a change in the size or shape or a change in appearance of this blood vessels within the eye most especially around the cornea. Although, this may not cause vision impairment or loss of vision, it certainly is not a pleasant condition to have to deal with most especially if the blood vessels are enlarged.
  4. General body tiredness, body weakness and a high level of heat intolerance is also to be noticed and experienced by the patient. Some males, however in addition to general body weakness tends to experience some sort of inflammation and swelling in both their legs and feet.

When there is a progression of the type 1 Fabry’s disease, the condition of the patient becomes quite serious and complicated.

When people with the type 1 Fabry’s disease reach their middle age (between 30-40 years), there is every tendency that they would develop either heart problems, kidney problems and/or stroke.

People with the late onset of Fabry’s disease or the type 2 Fabry’s disease tend to develop this disease later in life mostly when they begin to approach the ages of 40-60 years of age.

Type 2 Fabry’s disease can be very severe and complications may arise as regards the symptoms they are experiencing or may soon experience. The symptoms they might experience include:

  1. A noticeable progressive decline in one’s kidney function which may invariably lead to kidney failure.
  2. A massive enlargement of the heart due to buildup of fat around the heart muscles, severe angina (cheat pains around the heart), arrhythmia or irregular heart beat and rhythm, every thickening of the heart muscles which may end up affecting the vessels surrounding the heart which will eventually accumulate and result in heart failure.
  3. Stroke which may be seen to occur in both the men and the women (though usually common in women) of ages 40 years and above.
  4. Severe stomach problems.
  5. The patient might also experience partially total hearing loss.
  6. Ringing in one or both ears.
  7. Lung diseases
  8. Severe Fever and intolerance to heat
  9. Severe intolerance to strenuous activities and exercises.

Diagnosis of this particular disease may be very difficult due to the similarities of the symptoms of this disease with other diseases. Most times, most people don’t even get diagnosed till they have their first Fabry’s crisis. A child is often diagnosed from the kind of symptoms he/she presents.

While for an adult male, he would need to do full blood tests that will determine the level and amount of the damaged enzyme while for a female adult, she would need to do genetic screening because blood tests might be enough to diagnose the disease.

If in a family, there is a history of this disease, it is possible to run tests on the baby. This test is known as a prenatal test and this will help determine if the child has the disease or not.

It is very important to detect this disease in its early stages as this is a disease that tends to progress rapidly and if it is detected on time, early treatment goes a long way to reduce the symptoms of this disease even to the barest minimum.

Good news is that this disease can be managed if caught early. Treatment can also help to relieve the pains that comes along with this disease as well as prevent further damage poised by this disease.

Once a person is diagnosed of Fabry’s disease, it is very important to note that such a patient is advised NOT TO SMOKE. This is because smoking will increase the fat build up and cause further complications as well as lung problems. Not to mention the contamination of blood poised by the intake of Carbon monoxide (CO) gotten from the intake of cigarettes.

This article is for informational/educational purposes only. Healthtian does not provide medical advice, diagnosis, or treatment, read more.

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