Fabry disease is also known as alpha-galactosidase-A deficiency, is an inherited neurological disorder that is caused when the enzyme alpha-galactosidase-A cannot efficiently break down lipids (fatty materials) into smaller particles that provide energy to the body. This can cause the narrowing of the blood vessels, which can impact the nervous system and all your major organs. Fabry disease includes many symptoms, such as rashes and pain in the hands and feet.
This condition often begins in childhood and tends to be more common in women than in men. Fabry disease is seen in all ethnicities, racial groups, and demographics.
The common symptoms associated with Fabry disease are:
Fabry disease is associated with serious complications. These include:
Fabry disease is a genetic disorder passed down from parents to children through genes. This genetic condition does not allow the body to make an enzyme called alpha-galactosidase A. This substance is needed to break down fatty substances like oils, waxes, or fatty acids. You might also be able to produce this substance, but the enzyme does not work correctly.
The primary risk factor for this condition is genetics, if this condition is present in your family, the more likely you are to be diagnosed with it.
Diagnosis of this condition can be difficult, and it can take a long time to get a diagnosis. The symptoms of Fabry disease can impact many parts of the body and can seem like many other conditions. If you know that someone in your family has Fabry disease, this can help you to get a diagnosis much more quickly.
Blood tests are the most common way that Fabry disease is diagnosed. These tests will look for the levels of alpha-galactosidase A in the blood. You can also take a DNA test, which will show if you have the genes that cause the condition.
You cannot prevent getting this condition. This is a genetic condition, so there is no way to make sure that you do not get it.
Treatment is usually done via enzyme replacement therapy (ERT). These enzymes are given as infusions and they replace the enzymes that are not being produced in patient’s bodies. Being able to break down fats properly during digestion eases the pain and other symptoms that Fabry disease can cause.
There are also some new treatments that involve taking an oral medication, Galafold. This medication offers the same benefits as the ERT therapy, but the treatment is easier to administer.
If you are suffering from organ damage related to Fabry disease, your doctor might have to prescribe other medications. Drugs to relieve pain from nerve damage can be given, and blood thinners might be needed to help with irregular heartbeat. You might also need blood pressure medication or medicine that aids in digestion.
Those who suffer from Fabry disease must submit to regular tests to track their overall wellbeing. These might include blood, urine and thyroid tests, as well as EKG or ECG to check on the health of the heart. Hearing and eye exams might be more frequent as well and lung function tests might be done to verify cardiovascular and pulmonary health.