What is Fabry disease?
Because of this deficiency of the enzyme alfa-galactosidase A, patients with Fabry disease accumulate a lipid, globotriaosylceramide, also called Gb3. The accumulation of this substance then causes acute pain, severe kidney damage and ictus.
The disease affects various organs and devices 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 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, a very important symptom of the disease, which occurs more intensely in childhood.
The characteristic symptoms of Fabry disease at different age groups are:
In children: pain, angiokeratomas (skin spots), eye abnormalities (vertical cornea).
In adolescents: spots that become more obvious, the first signs of kidney damage, fever, inability to sweat or increased body temperature, abdominal pain.
In 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 caused by 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.
Fabry disease is caused by the deficiency of an enzyme that is then replaced with enzyme replacement therapy.
This treatment improves patients' clinical conditions by allowing them to have a more normal life. In order to benefit from all the benefits of enzyme replacement therapy, it is necessary that it be started as soon as possible, even before the onset of Fabry disease symptomatology. If it is started very early, many severe damages to vessels, nerves and heart can be avoided, reducing the risk of pain, heart attack, kidney and heart problems.
Published 28 May 2017