How Can Fabry Disease Be Prevented?
Fabry disease cannot be prevented. The responsible gene is located on the X chromosome and 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.
Fabry disease is a hereditary, metabolic, rare and severe disorder caused by the accumulation of a substance called Gb3 in the lysosomes of cells, in the renal epithelium, the myocardium, and the neurons of the spinal ganglia, the autonomic nervous system and the endothelial cells. It originates from the deficiency of the enzyme alpha-galactosidase A, which under normal conditions degrades Gb3 to produce galactose and lactosylceramide. The chronic and continuous deposit of Gb3 causes an increase in the cells size and their dysfunction.
The wide visceral distribution of Gb3 in this disease causes multiple organs and systems to be involved, and its clinical expressions change according to age. In general, the most constant signs and symptoms are neuropathic pain, cutaneous angiokeratomas and, later, renal, cardiac and cerebrovascular involvement.
Many people with Fabry disease point to pain as one of the main symptoms of their disease, and this may be one of the most difficult symptoms to treat.
Pain can often get worse with stress, alcohol consumption, fever, temperature variations, and some types of exercise. Here are some tips to avoid the triggers and reduce the severity of symptoms, including pain:
- Avoid extreme changes in temperature or humidity – layered clothing (which can be added on top or removed depending on temperature) can help avoid excess body heat or cold.
- If you are in cold weather, keep warm – especially your hands and feet.
- Drink plenty of fluids before and after periods of physical activity.
- Avoid excess physical exertion, although regular gentle exercise can help.
- Avoid emotional or physically exhausting situations.
- Keep alcohol consumption to a minimum level.
- Try not to get too tired – take a nap when you need it.
- Keep your vaccinations up-to-date, including the flu shot.
- Visit your doctor to maintain regular control of your health.
It is very important that you understand what tests should be done and how often they should be done so that you can discuss them with your doctor.
In order to control the progression of Fabry disease that you have, you will probably have to pass a series of biannual or annual tests (in children and some young adults, not all tests are performed on all visits).
Anemia is generally defined by the decrease in hemoglobin. It is diagnosed by taking a blood sample and carrying out what is called a “red series count”. Although anemia is not part of Fabry disease, it could worsen its symptoms.
Fabry disease can cause progressive kidney failure, so it is important to have tests to see how the kidneys are working:
- A blood sample can be taken to measure a chemical known as creatinine. This is used to calculate kidney function.
- A urine test can be done to measure the amount of protein in the urine, as this is the first sign of kidney disease.
- Kidney ultrasound can be done to check for cysts.
Three Tests Can Be Done To Look For Anomalies Of The Heart:
- The electrocardiogram (ECG) is used to analyze the heartbeat.
- 24-hour Holter or ECG monitor is generally used for 24 hours and offers details about heart rate and rhythm.
- The echocardiogram, which is a heart ultrasound, can be performed to evaluate the structure and heart functioning.
An MRI (magnetic resonance imaging) can be done to examine the brain. During the scan, you will be asked to lie on a scan table that will move inside the scanner tunnel.
You may also have an eye exam and a hearing test.
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