What is Fabry?
Fabry is an autoimmune (noncontagious) disorder that is more common in males. This disorder is caused by a mutation in the GLA gene. Since there is a variant in the GLA gene, the alpha-Gal A enzyme is either absent or defective. The alpha-Gal A enzyme is supposed to go to the cell’s recycling center and break down the fatty acids that build up in the cells. A result of that is your body having a tough time getting rid of fatty waste, such as globotriaosylceramide. With this disease, a type of fat called globotriaosylceramide builds in your body’s cells. As time progresses, you can slowly become sicker because of the buildup in your cells. Eventually, the buildup can cause damage to tissues and organs. Fabry disease can be a huge benefactor in kidney damage, heart attack, and strokes.
How do I know if I have Fabry?
This autoimmune disorder is rather rare and only affects about 1 in 40,000 to 60,000 males. It has a wide variety of symptoms, making it harder to diagnose, as the symptoms could also be related to a different illness,. While this disease typically is genetically inherited, there can be random mutations in the body called novo mutations. Thankfully, this is a very rare occasion, but it can still be passed down. Fathers pass their X chromosome with the fabry gene to their daughters, sons cannot get the faulty gene from their father because they receive the Y chromosome from their father, not the X chromosome.Since females have two X chromosomes (males have an X and a Y) they have a 50% chance of passing the faulty gene to their sons and daughters. (See additional links page to map your family tree).
The norm is that people are diagnosed with this disease around 28 years old. Hopefully, with more awareness, people can discover if they have this disorder and seek treatment quicker to live a longer and better life. Symptoms can vary a lot, especially from male to female. Some symptoms can also be milder than others. See the list below for symptoms and affects that fabry can have on the body.
- Episodes of pain/numbness/tingling in the hands and feet (acroparesthesias)
- Lusters of small, dark red spots on the skin (angiokeratomas)
- Decreased ability to sweat (hypohidrosis) or not be able to sweat at all (anhidrosis)
- Cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata)
- Problems with the gastrointestinal system such as diarrhea, constipation, and abdominal pain
- ringing in the ears (tinnitus)/ hearing loss
- High levels of protein in the urine (proteinuria) which can be linked to progressive kidney damage
- Heart attack/ stroke
- Dizziness
- Swelling in the legs, ankles, and feet (edema)
- Extreme pain during physical activity
- Heat or cold intolerance.
- Fatigue, fever, body aches, and other flu-like symptoms
How can I test for Fabry?
There are three different ways to test for Fabry including:
Genetic Testing: Doctors use genetic testing on females to identify a GLA gene mutation. This method is used because women can have normal levels of alpha-GLA enzymes.
Enzyme assay: This is a simple blood test which looks for the alpha-GAL enzymes in the blood. If the blood test comes back and there is a measurement of 1% or lower, it indicates disease. This test is more realiable for males and it is recommended that females use the genetic testing.
Newborn screenings: As part of the routine for newborn screenings, some states test for Fabry and other lysosomal storage disorders. It is usually a blood test drawn from a prick then their blood is tested to see if they are missing the alpha-GAL enzyme. Then they undergo an additional test which is the genetic testing to confirm the results.
Ways to manage/treat Fabry
Unfportunately there arent any cures for Fabry but there are two main treatments that can help as well as medications. First, there are medications that can help with all of the pain and that can ease the symptoms. Also, there are treatments that can slow down the build of the fatty acids, in doing that heart problems and kidney disease can be prevented. The two treatments are called enzyme replacement therapy, and oral chaperone therapy. Enzyme replacement therapy happens every two weeks and the patient recives an infusion. In the infusion IV is a lab made enzyme (fabrazyme) which does the work of the missing alpha-GAL enzyme. The agalsidase beta enzyme prevents substances from building up in the cells which what Fabry is. Before the infusion treatments the patient can be given antihistamine and other medications to obviate them from having an allergic rteaction during the therapy. Next is oral chaperone therapy, the patient takes a chaperone pill every other day to repair the alpha-GAL enzyme. Chaperones are small molecules that repair the alpha-GAL enzyme, allowing it to do its job and break down the fatty substance in the cells. However, this treatment is rather new and not everyone can be treated with this medication because it depends on the patients specific mutation in the faulty gene. Although those two therapy options are available at this moment, there are new therapies being developed using genetic engineering and stem cell technologies.