Fabry disease: Get informed

What is Fabry disease?

Because of the deficiency of the enzyme alfa-galactosidase A, patients with Fabry disease accumulate a lipid, globotriaosylceramide, also called Gb3. The accumulation of this substance may result in acute pain, severe kidney damage, heart attack, and stroke.

The disease affects various systems/organs such as the nervous system, kidneys, heart, and blood vessels. Due to the rarity of the disease and the multiplicity of symptoms, diagnosis is very difficult. In the absence of appropriate treatment, people with Fabry disease have a life perspective limited to 41 years and a significantly reduced quality of life. Not all symptoms appear at the same time and are never fully present.

The gene responsible for Fabry disease is transmitted through the X chromosome. In women, thanks to genotype XX, the abnormality is compensated by the functioning of the healthy X chromosome in different ways, in different tissues. Nevertheless, recent studies have shown that women with Fabry disease who do not receive enzyme replacement therapy may have a reduced life expectancy of 15 years.

Symptoms of Fabry disease

Fabry disease is associated with a wide range of symptoms that generally tend to worsen with age, with the exception of pain, which is a very important symptom of the disease that occurs more intensely in childhood.

The characteristic symptoms of Fabry disease at different age groups are:

+ Children: pain, angiokeratomas (skin spots), eye abnormalities (vertical cornea).
+ Adolescents: spots that become more obvious, first signs of kidney damage, fever, inability to sweat or increased body temperature, abdominal pain.
+ Adults: headaches, tinnitus (ringing in the ears), heart problems, kidney problems, and heart attack.

These symptoms can lead to depression and other psychological problems. The more serious problems that the disease can involve are heart, kidney, and vascular disease (heart attack). All these potential health problems are associated with a high risk of mortality among young people.

The treatment of Fabry disease

Once Fabry disease is suspected, the diagnosis is quite simple to make; men can usually be diagnosed with the blood test that measures alpha-GAL levels. Women, on the other hand, may have quite normal alpha-GAL levels, but still carry the defective gene. In this case, genetic testing is necessary to confirm the diagnosis.

The treatment for Fabry disease, which is caused by alpha-galactosidase A deficiency, is enzyme replacement therapy.

This treatment improves patients' clinical conditions by allowing them to have a more normal life. In order to avail all the benefits of enzyme replacement therapy, it is necessary to start the therapy as soon as possible, even before the onset of Fabry disease symptomatology. If ezyme replacement therapy is started early, the severe complications to blood vessels, nerves, and the heart can be avoided, reducing the risk of pain, heart attacks, kidney problems, and heart complications.

Published Dec 3, 2019