O Fabry disease is a rare genetic disease that is part of a group of diseases known as tlysosomal storage disorders (LYDs), according to the Spanish Heart Foundation. He adds that these problems are ccaused by changes (mutations) in the alpha-galactosidase gene or GLA gene and which cause a reduction in the production of an enzyme called alpha-galactosidase A.
“People with Fabry disease have a congenital deficiency, dysfunction, or complete absence of alpha-galactosidase A. As a result, a fatty substance (a lipid called globotriaosylceramide), which would otherwise be broken down by this enzyme, accumulates in the lysosomes of cells”, states the Foundation.
Over time, this accumulation causes damage to cells, tissues and blood vessel walls, leading to the appearance of symptoms of the disease. If left untreated, vital organs such as the kidneys, heart and brain begin to deteriorate over time and serious, sometimes life-threatening complications can occur.
Fabry disease occurs in two types: the classic form, with early symptoms and involvement of multiple organs, and the late form, which mainly affects a single organ. However, intermediate and atypical cases also occur.
“Fabry disease is estimated to affect one in 40,000 to 120,000 newborns of both sexes and all ethnicities. symptoms in the classic way, they can start in childhood, although the majority appear in adolescence or adulthood”, they state.
The gene responsible for Fabry disease is located on the X chromosome – one of the two chromosomes that determine an individual's sex – and is transmitted from one parent (the carrier) to their children. This means that there are differences between the way Fabry disease affects men and women and also in the way it is transmitted to children, according to the same sources.
“In men, this can be done by sending a small blood sample to the laboratory to measure the level of the alpha-galactosidase A enzyme and make a diagnosis. However, in women a genetic analysis is carried out to detect the true genetic defect and confirm the diagnosis”, they say.
Symptoms
O first symptoms (those that sometimes appear in childhood) include:
- Pain and discomfort in the hands and feet, often caused by hot or cold ambient temperatures or certain types of exercise
- Small raised red or purple spots (angiokeratomas) that appear mainly in the area between the navel and knees
- A decrease in the ability to sweat causing 'overheating' and a lower heat tolerance
- Changes in the cornea of the eye, without affecting vision.
As Fabry disease progresses, additional symptoms may appear, including:
- Fatigue (often extreme)
- abdominal cramps
- Frequent bowel movements right after eating
- Diarrhea
- Headaches
- Reduced ability to hear high frequencies or tinnitus (ringing in the ears)
- ankle swelling
- Chest pain or palpitations
There are some potentially more serious complications associated with Fabry disease, especially if left untreated. These include:
- Kidney disease, which can be detected by high levels of protein in the urine and a progressive decline in kidney function
- Heart disease, including progressive thickening of the heart muscle, irregular heartbeat and, if left untreated, progressive heart failure
- Disruption of normal blood flow to the brain.
This, in turn, can lead to strokes or stroke-like episodes in some patients.
The good news is that many of these symptoms can now be better controlled with regular treatment, either by giving the body the missing enzyme or using a small molecule that repairs the faulty enzyme.
Source: Spanish Heart Foundation
