Fabry disease

Carrier Test for Fabry Disease

Fabry disease, also called Anderson-Fabry, is caused by the deficiency, absence or incomplete functioning of an enzyme called alpha-galactosidase A. Over time, this can result in the accumulation of a waste substance called globotriaosylceramide (Gb–3) in cells, causing progressive damage to tissues and major organs. It is a rare condition, with an incidence of approximately 1:40,000 in males, and an estimated incidence of 1:20,000 in females.

From the Fabry Disease website:

Fabry disease  Carrier Test for Fabry Disease fabry hereditary infographic 1

Fabry disease

The gene that is altered in Fabry disease is located on the X chromosome. This means that men are always affected by the disease because they have one X chromosome. Women (called ‘carriers’) may not have symptoms, or their symptoms may be less severe or appear later in life because they have 2 X chromosomes. Women may or may not have it.

On average, a carrier mother will have a 50/50 chance of passing the gene change to her children (whether a boy or a girl), whereas an affected father will pass on the changed gene to his daughters but not his sons. Fabry disease is caused by the deficiency, absence or incomplete functioning of an enzyme called alpha-galactosidase A. Over time, this can result in the accumulation of a waste substance called globotriaosylceramide (Gb–3) in cells, causing progressive damage to tissues and major organs.

Symptoms Include: Impaired ability to sweat, which in turn causes frequent fevers and a low tolerance to heat or exercise. Other symptoms include ringing of the ears, raised red spots on the skin, stomach problems like pain, and eye and vision issues.

Treatment of this disease consists of replacement of the deficient enzyme with enzyme replacement therapy (ERT). This is given as an infusion into a vein. In most cases, ERT is used in conjunction with treatments for the management of specific symptoms, which are tailored to the individual.

Below is a video with more information about Fabry Disease. The video illustrates the inheritance patterns of Fabry disease and the wide range of physical signs and symptoms associated with the condition. Additionally, the video highlights that although there is no cure for Fabry disease, early diagnosis is essential to ensure timely treatment and management of the disease. If you have Fabry Disease in your family, talk to your doctor about DNA testing and discuss the relationships of the people in your family that you know have the disease. Be prepared to contruct a pedigree analysis showing who in your family has the disease.

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