Have you heard about Fabry Disease?
Do you know guys today I am going to talk about a disease? Even a few of us don’t have knowledge about Fabry disease. I am damn sure about this fact because I heard about this disease in a Korean web series i.e. Doctor John. In this webserie, I saw a patient who was suffering from Fabry disease. All of you guys will get lots of knowledge about this disease when you will read the whole blog.
Fabry is considered one of the rare genetic diseases from which around one in every 40,000 to 60,000 men are affected globally. Women can also have such disease, but the occurrence is still unknown as per the National Institute of Health. In other words, it is an inherited disorder that builds up of a particular type of fat in the body’s cells, called globotriaosylceramide. It begins in childhood, starts to affect several parts of the body, including the heart, kidney, CNS and skin. Characteristic features of Fabry disease include the episode of pain, majorly in the hands and feet (acroparesthesias), clusters of small, dark red spots on the skin known as angiokeratomas; a decreased ability to sweat (hypohidrosis) problems with the gastrointestinal system; ringing in the ears (tinnitus); hearing loss and cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata).
Causes of Fabry Disease
This disease is caused by a mutation in the GLA gene that instructs for making an enzyme, known as alpha-galactosidase A. However, this enzyme is active in lysosomes which serve as recycling centres within the cell.
Types of Fabry Disease
Fabry disease is two types that reflect a personage when symptoms occur during childhood.
Classic Type
Symptoms of the disease are generally appearing in early childhood or teenage years. Symptoms are a painful burning sensation in the hands and feet that may be noticeable. But these symptoms become worsen over time.
Late-onset/atypical
People with the late-onset generally do not have such symptoms until they become their 30s or older. But by the time first indication of the disease is heart disease or heart failure.
Common symptoms of the disease
Males tend to have more severe symptoms rather than females. Symptoms are
· Numbness, tingling, burning pain in feet and hands.
· Excessive pain during physical activity
· Intolerance of heat and cold
· Dizziness
· Hearing loss or ringing in ears
· Swelling in the legs and ankles
· Raised red or purplish skin lesion (angiokeratoma on the chest, back and in the genital area.
Tests & Diagnosis of Fabry Disease
Enzyme assay
With this test, specialists measure the alpha-Gal enzyme in the blood. This test is majorly preferable for males, not for females. The reason behind this is that females with Fabry disease can have a normal level of alpha-GAL enzymes. So, genetic testing was performed in females to determine the GLA gene mutation.
Treatment Of Fabry Disease
To be frank, there is no cure for Fabry disease. However, two treatments help to slow down the build-up of the fatty substances to resist heart problems, kidney disease and other life-threatening complications-
Enzyme replacement therapy
This therapy has a high prevalence of allergic reactions so doctors give antihistamines and other medications as prophylaxis. In this therapy, a patient receives an IV infusion of lab-mad agalsidase beta enzyme. This helps to miss the alpha-gal enzyme so that fatty substance does not build up.
Oral Chaperone therapy
Chaperones are small molecules that assist in repairing faulty alpha-GAL enzymes. These molecules also support breaking down the fatty substances. In this therapy, a patient receives a pill (migalastat every other day to stabilize the faulty alphaGAL enzyme. However, not everyone with this disease can treat with this pill because it is completely dependent on specific genetic mutations.
This disease is also tangled potentially life-threatening complications i.e. progressively kidney damage, stroke and heart attack.
People who have Fabry disease generally do not obtain enough healthy versions of an enzyme (blood chemical, called alpha-galactosidase A (alpha GAL). These enzymes resist sphingolipid, fat-like substances, from collecting in blood vessels as well as tissues. As I mentioned prior like it is an inherited condition which asses from parent to child. So, it is also known as Anderson Fabry Disease.
