Workup for Fabry's disease especially in women (f/u on the multiple little red spots)

July 19, 2004

, and any other folks who may know anything about Fabry disease. Well I

got the results back from the alphagalactosidase, one of the preliminary tests

for Fabry's disease. Kinda of a bummer. My level is 0.8, normal levels are 0.6

- 3.6. Sounds normal, right? Well unfortunately what they look for in women is

a low level of normal such as mine when assessing women with other markers for

Fabry's such as the multiple little tiny red spots on the abdomen and upper

thighs along with the proteinuria. My neph at Mayo who ordered the test is

vacationing in Europe now, so just for the " fun " of it, I called one of the

Fabry Centers in the US.and spoke with a very nice genetic counselor today. I

asked her what she thought of my level, since it was in fact normal, but on the

very low side of normal, and she said genetic testing was definitely advised.

Apparently most women with the disease have an atypical presentation and have

low normal levels like mine. Bummer, heh? Luckily the

disease in women is usually not as significant as in men, although can become

just as significant, specifically can develop into end stage renal disease much

quicker than Ig A. Anyway, the good news for the day is that she gave me a

phone # to obtain FREE genetic testing for Fabry's. (Can you believe it!! Costs

several hundreds of $ evidently) Now my dilemma is, do I call my Neph's office

at Mayo when he returns, or just wait till I see him at the end of August, or

should I call my Neph here, and let him know all this, and see what he says.

Obviously things are not going to change from now till the end of August,

(either I have it, or don't), but would be nice if he had the results when I see

him next visit. However evidently takes quite a long while to get the genetic

testing back.

Food for thought anyone? Know anyone with the disease? Thanks for your help.

Bonnie

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