Fabry is a rare hereditary condition that involves a mutation in the gene called α-galactosidase A (α-Gal A) which enables the production of the lysosomal enzyme of the same name. The α-Gal A enzyme digests the lipids or fats and other substances. Fabry patients, however, either lack or have low levels of these enzymes which causes the lipids to build up and cause problems in different organs.
There are two types of Fabry disease such as classic and nonclassic. Individuals affected by the classic type develop symptoms in their childhood. These include gastrointestinal problems like diarrhea and constipation, decreased sweating as well as burning and painful sensation in the hands and feet. If left untreated, patients eventually suffer from more serious conditions such as heart and kidney disease, and stroke.
Those who are affected by the nonclassic type, on the other hand, exhibit symptoms only later in life, usually between 30 and 70 years of age. Some of them however already present symptoms during their young adult years. The symptoms they usually first experience are kidney or heart disease.
Unless the patient has a relative who has been diagnosed with Fabry, it is quite difficult to get an accurate diagnosis. This is because Fabry symptoms are diverse and often non specific. For males, a blood test measures the level of alpha-GAL enzyme. If the alpha-GAL enzyme assay or test shows low enzyme activity, then the person has Fabry disease. For females, a DNA test is required. This is because alpha-GAL enzyme levels may be low or near-normal in females. DNA tests can be performed using blood or saliva.
If you or someone in your family have symptoms of Fabry disease, your doctor can help you decide whether to get tested. Your family history may play a role in this decision because Fabry disease is inherited, but oftentimes family history is unknown or diagnoses did not happen. Accurate tracking of symptoms is critical when this is the case. In some countries, newborn screening is instrumental for early detection of a range of possible disorders including Fabry.
Because of the difficulty of getting a diagnosis, many patients suffer from the symptoms without knowing the cause. A lot of them find out they have Fabry only after a kidney failure or serious heart complications.
This month, help spread awareness about Fabry so that more people could be diagnosed earlier and receive appropriate treatment.
If you or anyone you know are affected by Fabry, we invite you to sign up to our Living with Fabry community so that you can have a safe and supportive online community.