How is Fabry diagnosed?

How is Fabry diagnosed?

A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an enzyme assay test. Males with classic Fabry disease essentially have no alpha-galactosidase A enzyme (less than 1% of normal).

What are the signs and symptoms of Fabry disease?

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.
  • Flu-like symptoms, including fatigue, fever and body aches.

How rare is Fabry?

Affected Populations Fabry disease is a rare pan-ethnic disorder, meaning that it occurs in all racial and ethnic populations affecting males and females. It is estimated that type 1 classic Fabry disease affects approximately one in 40,000 males.

What is the blood test for Fabry disease?

The primary blood test for the diagnosis of Fabry disease assesses the activity of the alpha-galactosidase A enzyme. Another blood test, which detects the presence of a fatty substance called lyso-Gb3, also can be performed and may indicate the severity of the disease.

When do you suspect Fabry disease?

The importance of early diagnosis The time to diagnosis of Fabry disease takes an average of 15 years from when symptoms first appear. Individuals may experience many years of suffering and frustration while potentially receiving unnecessary medical treatments due to misdiagnoses.

How long can you live with Fabry disease?

Published data from the Fabry registry indicates that male Fabry disease patients live an average of about 58 years, compared to about 75 years for men in the general population in the U.S. For women with Fabry disease, the average life expectancy is around 75 years compared to 80 years for women in the U.S. general …

What age does Fabry disease start?

Fabry disease is a rare genetic disease and symptoms that affect the kidneys, heart, or brain most often occur when patients are age 30 to 45 years.

Can Fabry disease be cured?

There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.

How does Fabry disease affect the brain?

As a result, many neurological deficits may occur in a patient with Fabry disease. These include hemiparesis, vertigo/dizziness, diplopia, dysarthria, nystagmus, nausea/vomiting, headaches, hemiataxia and dysmetria, cerebellar gait ataxia and, very rarely, cerebral haemorrhage [4].

Is Fabry disease terminal?

If it’s not broken down, Gb3 accumulates in cells and can cause damage, possibly leading to life-threatening complications, including kidney damage, heart attacks, and stroke.

Is Fabry disease curable?

Can someone with Fabry disease have children?

In this type of inheritance pattern, if a man has Fabry disease he will pass the disease on to all of his daughters and none of his sons. If a woman has Fabry disease, each child born to her has a 50% chance of having the disease.