What Is Fabry Disease? - The Well Connected Collective
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What Is Fabry Disease?


What Is Fabry Disease?

Fabry disease is a rare genetic inherited disorder. A chemical in the body which would normally be broken down builds up and causes damage, mainly to the heart, kidneys and brain. This chemical that builds up is called GL-3/GB-3 lipid.

What Causes Fabry Disease

A chemical called ‘GL-3’ builds up in the body in Fabry disease, because it is not broken down.

An enzyme should break GL-3 down, but is missing or defective in Fabry disease. Chemical changes in the body need the help of enzymes to take place. There is a different enzyme for each type of chemical reaction in the body, so that thousands of enzymes make the body work. It is a bit like a production line in a factory, where a series of different machines make a series of changes to produce an end product, or to break down waste. If one machine on a factory production line were to break down, there would be a build up of half finished goods by the machine. This is what can happen if an enzyme in the human body is missing or defective.

In Fabry disease the missing enzyme is called alpha-galactosidase, and GL-3 is the chemical on which alpha-galactosidase should be acting.

What are the symptoms of Fabry disease?

Symptoms of Fabry disease vary person to person. Some symptoms are mild and might not appear until later in life.
Fabry disease symptoms include:

  • Numbness, tingling, burning or pain in the hands or feet.
  • Extreme pain during physical activity.
  • Heat or cold intolerance.
  • Abnormal opacity of the eye (cornea), which does not change someone’s vision.
  • Dizziness / Vertigo
  • Flu-like symptoms, including fatigue, fever and body aches.
  • Gastrointestinal problems, such as diarrhea, constipation and abdominal pain.
  • Hearing loss or ringing in ears (tinnitus).
  • High levels of protein in urine (proteinuria).
  • Raised red or purplish skin lesions (angiokeratoma) on your chest, back and in the genital area.
  • Sweating less (hypohidrosis) or not at all (anhidrosis).
  • Swelling (edema) in the legs, ankles or feet.

What are the complications of Fabry disease?

Years of build up of the fatty substance can damage blood vessels and lead to life-threatening problems, such as:

  • Heart problems, including arrhythmia, heart attacks, enlarged heart and heart failure.
  • Kidney failure.
  • Nerve damage (peripheral neuropathy).
  • Strokes, including transient ischemic attacks (TIA or ministrokes).

How Do You Get Tested / Diagnosed

Your GP or Consultant  may order tests to diagnose Fabry disease, including:

  • Enzyme assay: This test measures alpha-GAL enzymes in blood. Measurements of 1% or lower indicate disease.
  • Genetic: Because females with Fabry disease can have normal levels of alpha-GAL enzymes, providers use genetic testing (DNA sequencing) to identify the GLA gene mutation.

**Please note you may go undiagnosed or misdiagnosed for some time especially as a female living with the disease.
This is often down to the variety of symptoms that can often be linked to Chronic fatigue, Fibromyalgia or cross over into other chronic illnesses.
If you suspect Fabry or have other family members with very similar conditions or even heart issues / kidney disease it is worth a conversation with your GP.**

For Further Facts / Information

Fabry Disease MPS Registered Charity

National kidney Federation UK 

Mark Holland metabolic Unit Salford

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