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Post by buddhasbelly on Feb 20, 2012 18:28:12 GMT -5
Hi everybody! Next week I am going to meet with the geneticist for the first time to talk about testing for HFI. I have found out that in the Netherlands they offer enzyme testing (from a liver biopsy) at two hospitals, and DNA testing at one other hospital. If the choice is up to me, what do you think I should choose/press for? I know the DNA test is about 85% acurate. But now I read somewhere here that enzyme testing is also not always correct. Does anyone know more about this? Do you think it would matter with the enzyme test that I have been on a low fructose diet for the last eight months? Thanks in advance!
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esmee
Full Member
gluten, lactose, fructose, histamine, and salicylate intolerant
Posts: 236
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Post by esmee on Feb 20, 2012 19:33:26 GMT -5
Personally, I would get the genetic test first because it is the least invasive. It also has a high degree of accuracy for people of Caucasian (white) descent. Then, if it comes back negative, you could ask for the liver biopsy to check for the presnece of aldolase B. I have never read anything that says abstaining from fructose will change the accuracy of either the genetic test or the liver biospy test, but you could email Dr. Tolan tolan@bu.edu and ask him that question.
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Post by ukbill on Feb 20, 2012 22:38:58 GMT -5
Apparently they can take a biopsy for the small intestine and test that instead of a sample form the liver..
I think that has to be safer than a liver biopsy.
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Post by sarosh on Feb 21, 2012 3:00:42 GMT -5
A sample from the intenstine should be possible in an endoscopy I guess - that is much simpler as the endoscopy is quite a safe procedure.
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Post by buddhasbelly on Feb 21, 2012 6:01:37 GMT -5
Thank you all for your suggestions. I never knew a liver biopsy is not a safe procedure. Do you really think it is that dangerous? I guess, since my doctor is a geneticist, that she will go for the DNA test first, so than I will be good. Although here in the Netherlands you need to send in four different samples for the DNA test, not just blood, if I understood correctly. Or maybe it is four kind of samples you can choose from to send in? Anyway, I guess a skin biopsy is not that dangerous as a liver biopsy ;-) www.labgmd.nl/diagnostics/dna/t/49 |
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esmee
Full Member
gluten, lactose, fructose, histamine, and salicylate intolerant
Posts: 236
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Post by esmee on Feb 21, 2012 20:13:18 GMT -5
Hi Fred,
I thought from what Laura posted about you on her blog that they did find one copy of a genetic mutation, but not two. That, in combination with your severe symptoms following fructose ingestion, would seem to indicate that you most likely do have a second copy of a mutated gene that has yet to be identitified. How long ago was the genetic test done? I wonder if the other mutations would now be picked-up? I wonder if they saved you blood for future reference as more mutations are discovered?
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esmee
Full Member
gluten, lactose, fructose, histamine, and salicylate intolerant
Posts: 236
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Post by esmee on Feb 22, 2012 0:31:25 GMT -5
Thanks, Fred.  |
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Post by buddhasbelly on Feb 24, 2012 20:11:04 GMT -5
Fred, your story convinced me even more to press for a DNA test first, thank you! Now I just have to see I get through the weekend, I am so done waiting for any news that explains what is going on with me. But I am sure, most of you recognize that too.
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Post by Tamara on Apr 26, 2015 9:53:04 GMT -5
buddhasbelly,
Pleaaase tell me where you got tested in the netherlands?
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