About the disease

The Fabry disease is a rare genetic mutation, caused by incorrect arrangement of the GLA gene. This gene contains the blueprint for the enzyme alpha-galactosidase (alpha-Gal), which performs a key role in the human body. Its purpose is the decomposition of certain products of metabolism, to enable their reuse or excretion. The mutation causes the enzyme to be present in too small amounts to perform its function. This results in unprocessed substances clogging blood vessels, and causing damage to the body.

The mutation which causes Fabry’s disease is coupled with the X chromosome. This means, that a mother will pass on the disease to half of her daughters and sons. A father will pass on the gene to all daughters and none of his sons.

The first symptoms of the disease can be seen in early childhood. Because the disease is coupled with the X chromosome, males usually suffer more severe symptoms, and develop them earlier. This is not always the case, however, because many women also suffer from equally severe symptoms, which can appear just as early.

In the early stages of the disease the symptoms are very ambiguous, therefore the disease is often not diagnosed until one becomes a grown-upm, which is far too late, because the damage done to the organism is irreversible by then.

The most typical symptoms of the Fabry disease are:

• Very strong, burning pain of hands and feet, which can radiate to the entire body. This is one of the first visible symptoms, and it usually gets stronger after excercise, when the body temperature or the temperature of the surrounding is high.
• Disorders of thermoregulation, which lead to the body overheating and a sweating disorder.
• A characteristic purple or red rash. This is one of the few visible symptoms. It is usually visible around the belly button, knees, and elbows, although not every patient will have it.
• Problems with the digestive system.These are usually in the form of a stomach ache, diarrea, or nausea.
• Deposits in the cornea, which are visible during a simple eye inspection with the use of a slit lamp.
• Chronic fatigue.
• Kidney disfunction. This is not as much a symptom as it is a result of the disease. The accumulated deposits lead to damage and eventually kidney failure. Patients often require dialysis therapy at an early age.
• Disorder of the circulatory system. Similarly, to kidney failure, it is one of the later symptoms of the disease. The effects of the disease include: an overgrown heart chamber, heart rythm disorder, impaired valve function, as well ass stroke or heart failure.
• Disorder of the central nervous system. This is one of the most serious effects of the disease, which often leads to untimely and numerous brain strokes.

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Szereg informacji na temat choroby Fabry’ego, możliwości leczenia, działania programu lekowego, a także innych aspektów związanych z życiem z chorobą Fabry’ego można znaleźć w Przewodniku w  chorobie Fabry’ego opracowanym przez Stowarzyszenie Rodzin z Chorobą Fabry’ego.