Top
10
Doctor insights on: Is It Safe To Fabry Disease

Share
1

1
Are there safe alternative therapies for fabry disease?

Are there safe alternative therapies for fabry disease?

Enzyme Replacement: Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function. ...Read more

Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Definition)

Fabry disease is an inherited condition caused by abnormal deposits of a specific fatty substance in blood vessels and various organs of the body. Symptoms are broad and vary depending on where ...Read more


2

2
What is fabry disease?

What is fabry disease?

A genetic disorder: Fairy is an x- linked metabolic disorder due to a deficiency of an enzyme(galactosidase a). So a compound of suger and fatty acid which is usually breaks down by the enzyme in normal people will accumulate in blood vessels and organs of the affected person and cause symptom off pain, fatigue, dark red skin rash(angiokeratomas) and it slowly progresses to kidney, heart and neurological problem. ...Read more

3

3
What is fabry disease like?

What is fabry disease like?

Can be treated: Enzyme replacement therapy holds promise and has been fda approved. Symptoms begin during childhood and include burning sensations in the hands that gets worse with exercise and hot weather and small raised reddish-purple blemishes on the skin. Eye signs include cloudy cornea. Lipid storage may lead to poor circulation, increased risk of heart attack, stroke, kidney disease. ...Read more

4

4
Fabry disease, what is this?

Fabry disease, what is this?

Fabry's disease: Fabry's disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, Alpha galactosidase A, this is normally responsible for the breakdown of globotriaosylceramide. For more info see: http://www.fabry.org/fsig.nsf/pages/fabry ...Read more

5

5
Is there a cure fabry disease?

Is there a cure fabry disease?

Not yet: Hang in there, recent research suggests some amazing breakthroughs are on the way. Google the disease and contact the major research centers. ...Read more

6

6
What is "anderson-fabry" disease?

What is "anderson-fabry" disease?

Same as Fabry: Still an inborn error of metabolism http://www.Ninds.Nih.Gov/disorders/fabrys/fabrys.Htm. ...Read more

7

7
Does fabry disease affect only males?

Does fabry disease affect only males?

Not always: The mutation is carried on the x-chromosone. Men have one y and one x chromosome, therefore they tend to express the gene product. Women have two x chromosomes, so it depends on which x chromosome becomes more active. In some unlucky women, they can express the full blown symptoms of fabry's disease. There are also some special cases of xy women out there, they would be likely to have symptoms. ...Read more

See 1 more doctor answer
8

8
What are the tests for fabry disease?

What are the tests for fabry disease?

Blood test: If the disease is suspected then the genetic tests can be done to look for the x linked galactosidase a enzyme deficiency. ...Read more

9

9
What are the symptoms of fabry disease?

What are the symptoms of fabry disease?

Fabry disease: This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a , leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years. ...Read more

See 1 more doctor answer
10

10
What sort of disorder is fabry disease?

What sort of disorder is fabry disease?

Fabry disease: Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. More at: http://www.Ninds.Nih.Gov/disorders/fabrys/fabrys.Htm. ...Read more