Top
20
Doctor insights on: Fabry Disease

Share
Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Overview)

Disease described by Fabry


1

1
What can I expect after being diagnosed with fabry disease?

What can I expect after being diagnosed with 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 2 more doctor answers
Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Overview)

Disease described by Fabry


2

2
I'm curious. What symptoms go along with fabry disease?

I'm curious. What symptoms go along with fabry disease?

Many: Fabry's is an inherited deficiency of alpha-galactosidase metabolism, more common in males but rare overall. The most common findings are angiokeratomas of the skin, peripheral pain in the extremities, and corneal deposits (vortex) which occasionally diminish vision but do not lead to blindness. There are a lot of gi, heart and other problems. A pricey enzyme is available for treatment. ...Read more

See 1 more doctor answer
3

3
Living with Addison's Disease (Checklist)

Wear a medic alert
Once
Take additional hydrocortisone/prednisone for fever or injury
Once
4

4
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
5

5
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

7

7
I would like to know which chromosome is affected in fabry disease?

I would like to know  which chromosome is affected in fabry disease?

Fabry Disease: Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. If you search the Web there are many resources available to get more information on this disorder ...Read more

8

8
Does any one know about fabry disease treatment?

Does any one know about fabry disease treatment?

Fabry Disease Treatm: Treatment of fary disease is enzyme replacement therapy, but unfortunately it costs about 200000.00 us dollars per year and is not a cure but slows the progression of the disease and improves metabolism, and relieves some pain symptoms, but some patients need pain management, analgesics, anticonvulsants and non steroidal anti inflammatory drugs. ...Read more

9

9
Living with Sickle Cell Disease (Checklist)

Keep doctor's appointments
Once
Go to lab appointments
Once
Keep oxygen up by maintaining low weight, no smoking
Once
10

10
What are the advantages and disadvantages of different treatments for fabry disease?

What are the advantages and disadvantages of different treatments for fabry disease?

Few available: Treatment for this inherited disease of alpha-galactosidase deficiency is an enzyme infusion available from two sources at a very expensive cost. This is not a cure but will attentuate the symptoms and allow a mostly normal lifestyle. ...Read more

See 1 more doctor answer
11

11
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

12

12
Living with Celiac Disease (Checklist)

Schedule a visit with a dietitian
Once
When eating out, inform your waitstaff you are intolerant of gluten
Once
13

13
What is fabry disease? Is it a genetic problem?

What is fabry disease? Is it a genetic problem?

Yes.: Yes, it is inherited on the x chromosome, which means that it is usually (but not always) worse in males. It causes a variety of symptoms, which can be very severe. Fortunately, it is quite rare. ...Read more

14

14
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

15

15
Living with Crohn's Disease (Checklist)

Find a gastroenterologist and follow their treatment regiment
Once
Stop smoking
Once
16

16
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

17

17
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

19

19
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

20

20
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