Researchers May Have Found a Way to Improve the Rate of Diagnosis for Fabry Disease

A new study conducted by researchers in Japan has uncovered a new potential way to diagnose Fabry disease.

Fabry Disease

Fabry disease is an illness which inhibits the patient from producing the alpha-galactosidase A enzyme (alpha-Gal A). Alpha-Gal A is necessary for dividing Gb3 or GL-3 in the body.

Symptoms include acroparethesias, angiokeratoma, vision impairment, being unable to sweat, and vascular issues. The vascular issues can impact the brain, kidneys, and heart.

Like many rare diseases, Fabry disease unfortunately is often misdiagnosed simply because many are not educated on the topic.

If we could improve our screening processes for high risk individuals who are exhibiting symptoms, we could improve the rate at which we diagnose patients.

New Method of Diagnosis

As of now, Fabry disease is diagnosed by measuring alpha-Gal A activity in leukocytes. Japanese researchers believed that analyzing this activity in a simple sample of dried blood may be able to improve the rates of early diagnosis. Of course earlier diagnosis means earlier treatment.

The Examination

In total there were 2,325 participants in the investigation of this new diagnostic method. They had the following characteristics-

  • Median age: 66
  • 63% – undergoing hemodialysis
  • 26% –  left ventricular hypertrophy
  • 16% – high amounts of protein found in urine
  • 11% – had a stroke
  • 18% – typical Fabry disease symptoms

After the samples were collected, the researchers evaluated alpha-Gal A activity. Results were as follows-

  • Mean alpha-Gal A activity in women was 24.2 Agal U
  • Mean alpha-Gal A activity in men was 24.5 Agal U
  • Low enzymatic activity (20 Agal U) for 333 women
  • Low enzymatic activity (12 Agal U) for 77 men
  • In total 410 patients had low enzymatic activity

A second analysis was then conducted with the 410 participants who showed low enzymatic activity.

  • New samples were able to confirm the results for 12 men and 80 women (92 participants total)

A third analysis used the samples from the 92 patients and investigated whether or not mutations in the GLA gene were present (a characteristic of Fabry disease).

  • 6 participants, or .26% of all of the total, had GLA mutations.

Why it Could be so Beneficial

This new screening method could be beneficial because it is easy to conduct. Physicians  will be able to use the test to better identify Fabry disease patients. The sooner these individuals can be identified, the sooner they can begin treatment and their quality of life can improve. Additionally, it reduces the risk for more serious complications. It’s a cyclical evaluation whose implementation could ultimately better patients lives.

You can read more about this new diagnostic method here.


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