Fabry disease (also known as Anderson-Fabry disease in honor of the two doctors who discovered it) is a rare genetic disease that is part of a group of conditions known as lysosomal storage disorder caused by alterations (mutations) in the alpha galactosidase gene or GLA gene that affects approximately 1 in every 120.000 people. These alterations cause a reduction in the production of an enzyme called alpha-galactosidase A.
Patients with Fabry disease can have an involvement of the heart in addition to other organs such as the kidney and the nervous system.
People suffering from Fabry disease have a lack, dysfunction or total congenital absence of alpha-galactosidase A. As a result, a fatty substance (CTH) that would otherwise be broken down by this enzyme accumulates in the lysosomes of cells.
It has been estimated that Fabry disease affects one of 40.000 to 120.000 newborns of both sexes and of all ethnicities. Symptoms of the classic form may begin in childhood, although most appear during adolescence or in young adults.
The gene responsible for Fabry disease is located on the X chromosome – one of the two chromosomes that determine the sex of an individual – and it is transmitted from one of the parents (the carrier) to their children. This means that there are differences between the way in which Fabry disease affects men and women, and also in the way it is transmitted to their children.
What Are The Symptoms Anderson-Fabry disease?
The symptoms of Fabry disease vary from person to person. Symptoms tend to appear at an earlier age in boys than in girls.
The first symptoms (those that sometimes appear in childhood) include:
Pain and discomfort in the hands and feet, often caused by hot or cold environment temperature or by certain types of exercise, small red or purple spots with relief (angiokeratomas) that appear mostly in the area between the navel and the knees, a decrease in the ability to sweat that causes ‘overheating’ and a lower tolerance to heat and changes in the cornea of the eye, without the sight being affected.
As Fabry’s disease progresses, there may appear additional symptoms, including fatigue (often extreme), abdominal cramps, frequent bowel movements shortly after eating, diarrhea, headaches, reduced ability to hear high frequencies or tinnitus (ringing in the ears), swelling of the ankles, chest pain or palpitations.
The good news is that many of these symptoms can now be better controlled with regular treatment.
There are some potentially more serious complications associated with Fabry disease, especially if left untreated. These include:
- -Kidney disease, which can be detected for high levels of protein in the urine and a progressive decline in kidney function.
- -Pathological conditions of the heart, including progressive thickening of the myocardium, irregular heartbeat of the heart, and if left untreated, progressive heart failure.
- -Interruption of normal blood flow in the brain. This too can cause strokes or stroke-like episodes in some patients.
Can Anderson’s Disease Be Reversed?
The disease cannot be reversed but one can manage the symptoms. The main triggers of the ‘Fabry crisis’ and which, therefore, should be avoided, are extreme temperatures or sudden changes, humidity, alcohol/ tobacco, also fatigue and stress.
Therefore, to lead a life as normal as possible and try to avoid crises, it is recommended:
- -Use of layers of clothing and natural fabrics such as cotton to prevent temperature changes. Also, try to keep warm hands and feet.
- -Do not do strong exercises or that you get tired in excess and stay hydrated. Always check with your doctor before starting a new activity.
- -Try to sleep the recommended 8 hours a day, do not over-effort and avoid stressful situations.
- -Keep up with medical visits, follow the recommendations of the specialists and make sure you understand the results of the tests.
Over time the CTH accumulation causes damage to the cells, tissues and walls of the blood vessels, causing the onset of the symptoms of the disease.
If left untreated, vital organs such as the kidneys, heart and brain eventually begin to deteriorate can result in serious complications, sometimes life threatening.