Fabry Disease

Fabry Disease, also known as 'alpha-galactosidase-A deficiency', is a rare genetic disorder caused by a lack of the enzyme alpha-galactosidase-A. This enzyme is crucial for breaking down fatty material in our body, called sphingolipids. Due to the deficiency, this fatty material accumulates in the blood vessels and organs, leading to organ dysfunction.

This condition is inherited through a mutated gene on the X-chromosome (sex chromosome). Men have only 1 copy of the X-chromosome, while women have 2 copies of the X-chromosome, which explains why men typically experience earlier and more severe symptoms than women

Symptoms of Fabry Disease vary, with some appearing later in life. Many symptoms are also non-specific which results in late diagnosis.

Symptoms include:

1. Numbness, tingling, burning or pain in the hands or feet
2. Extreme pain during physical activity
3. Heat/cold intolerance
4. Abnormal eye pattern
5. Flu-like symptoms (such as fatigue, fever and body aches)
6. Gastrointestinal issues (such as diarrhea, constipation and abdominal pain)
7. Hearing loss
8. High protein in urine
9. Darker skin lesions on the chest, back and genital area.
10. Reduced sweating
11. Leg swelling

Complications of Fabry Disease

1. Heart conditions
   • Irregular heartbeats
   • Abnormally slow heart rate
   • Abnormal thickening of heart muscles
   • Heart valve disorders
   • Heart failure
2. Kidney failure
3. Peripheral neuropathy
4. Stroke

Diagnosing Fabry Disease requires a high degree of clinical suspicion. For men, a blood test measuring alpha-galactosidase-A levels can confirm diagnosis. Genetic testing for the specific X-chromosome gene mutation can also aid in diagnosis.

The aim of Fabry Disease treatment is to slow down fat build-up and prevent heart, kidney disease, and other life-threatening complications.  Symptom management is crucial for a better quality of life.

Common treatments of Fabry Disease include:

1. Enzyme replacement therapy to replace the missing enzymes
2. Oral chaperone therapy to repair the faulty enzymes

Research to 'correct' the mutant gene is currently ongoing, with hopes of developing therapeutics in the future.