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Fabry Disease
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Finding A Cure For Fabry Disease

What is Fabry disease? You may have heard of this term. Those with this ailment usually lack the enzymes for breaking down fats or lipids. The fats accumulate in blood tissues and vessels, increasing heart attack, kidney failure and stroke-related risks considerably. This is a genetic condition which often passes to children from their parents. Oral chaperone and enzyme replacement therapies may help in combating complications of a serious nature.

Knowing More About Fabry Disease

Those with this ailment do not churn out sufficiently healthy enzyme versions known as alpha-galactosidase (alpha-GAL). These are enzymes which keep sphingolipids, which are fat elements, from accumulating in the tissues and blood vessels. Without these enzymes, the harmful sphingolipids will start building up in the tissues and blood vessels.

Fabry Disease

The ailment will impact the kidneys, heart, central nervous system, brain and skin. The condition is usually inherited and is known by the name of Anderson-Fabry disease. 

Fabry Disease Types

  • Classic Type Classic Fabry disease symptoms usually crop up at the time of childhood or even in the teenage phase. One such symptom is the burning and painful sensation in the feet and hands. These may be noticed as early as two years of age and symptoms may worsen with the passage of time. 
  • Atypical/LateOnset Type Those with Fabry disease do not have symptoms till they are above 30 or even older. The first symptom may be heart or kidney ailments. 


Roughly one out of forty-thousand male individuals have chances of Fabry disease while later onset is commoner. It impacts one out of every 1,500-4,000 male individuals. Many women do not have these symptoms and some have milder ones. Hence, the condition sometimes remains undiagnosed for women as per several reports. 

Fabry Disease Symptoms and Reasons

Here are some of the causes that are worth noting: 

  • Children usually inherit the mutation in the GLA (galactosidase alpha) gene from a parent on the X chromosome. The GLA gene churns out the alpha-GAL enzyme helping in the break-down of fatty elements. 
  • Those inheriting the defective gene do not generate sufficient alpha-GAL enzymes. This leads to the build-up of fatty substances in the blood vessels. 
  • Those inheriting the mutated parental gene on the X chromosome are susceptible to the disease. Men usually inherit one such chromosome from their mothers while women inherit one from each of their parents. 
  • Fathers may pass X chromosomes with faulty genes to their daughters. Mothers have 50% likelihood of passing these chromosomes to their sons or daughters. 


Here are the symptoms of the ailment: 

  • Tingling, numbness, pain or burning sensation in the feet or hands. 
  • Extreme pain while taking part in physical activities. 
  • Intolerance to cold/heat. 
  • Abnormal eye opacity. 
  • Flu-esque symptoms. 
  • Dizziness. 
  • Fever, body ache and fatigue. 
  • Raised purple/red lesions on the skin, covering the back, chest or genitals.
  • High protein levels in urine. 
  • Ringing sounds in the ears or loss of hearing. 
  • Gastrointestinal issues including constipation, diarrhea and pain in the abdomen. 
  • Swelling in the feet, ankles and legs. 
  • Lower sweating. 


Testing and Diagnosis

There are numerous tests for diagnosis of the ailment including the following: 

  • Genetic Tests Women with this disease may sometimes witness normal alpha-GAL enzyme levels, necessitating genetic testing for identification of the GLA gene mutation. 
  • Enzyme Assay This tracks the blood alpha-GAL enzymes with 1% or lower results indicating the ailment in question. This test is regarded as the most reliable option for men. 
  • Screenings of Newborns Newborns may sometimes undergo testing for the disease and the procedures include the enzyme test. 


Fabry Disease Treatment and Management

There is no specific cure in sight for Fabry disease and medications for stomach and pain issues may also help in easing symptoms. There are two treatment types which may reduce build-up of fatty elements with an aim towards combating kidney and heart ailments along with other potentially fatal complications. Enzyme replacement therapy is done every two weeks, giving the individual an intravenous agalsidase beta enzyme infusion. This replacement functions like the alpha-GAL enzyme which combats the build-up of the fatty elements. Anti-histamine and other medicines may be given before the procedure. 

Oral chaperone therapies are also done in some cases. Chaperones are smaller molecules which enable the repair of alpha-GAL enzymes that are faulty in nature. The healed enzymes then help in breaking down fatty elements as well. This therapy requires the consumption of a pill for stabilization of the enzyme in question. This medication is only given for particular gene mutation types (GLA gene). 

Possible Complications

  • Heart issues like enlarged heart, arrhythmia and heart failures. 
  • Nerve damages. 
  • Kidney failures. 
  • Strokes. 


How can I combat Fabry disease? 

The disease is an inherited condition. If someone carries the mutated gene causing the ailment, then you should consult an expert or specialist right away. A procedure known as PGD (preimplantation genetic diagnosis) may be carried out for identification of embryos not carrying the mutated gene in question. The healthy embryos are then implanted with IVF to make sure that the individuals’ child will not get the same condition or disease. 

What is the scope for those suffering from fabry ailment? 

Fabry disease is a highly progressive ailment with the symptoms and risks going up over time. Those with this ailment usually have more risks of fatal issues which may reduce overall life expectancy. Men with the classic disease usually have life expectancy till their late 50s. Women with the ailment usually live till their 70s as per estimates. You can take suitable care for keeping side effects at bay, especially strokes. 

When should I reach out to the doctor for Fabry disease? 

You should consult your doctor in case you suffer from the Fabry disease and have symptoms like chest pain, shortness of breath, irregular heartbeat, fluid retention, high swelling and dizziness. You should also reach out to your doctor if you have symptoms like diarrhea, abdominal pain, vision issues and stroke signs. 

What should I ask my doctor about the Fabry disease? 

You should ideally enquire about the reasons for Fabry disease, the type and treatment choices. Ask about the side effects and risks and find out whether other family members have risks of getting this ailment. Enquire about the need for genetic testing and also other complications that may arise. Chalking out a suitable care regime is highly essential in such scenarios. 

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