Dear Dr Vasikaran,
I guess the first thing to do would be to determine if the amyloid
producing disorder was acquired (eg light chain etc, where family
testing would be irrelevant) or genetic.
If genetic then it could be any of twenty different known proteins some
of which are of course more common than others.
Transthyretin, as stated by Andrew Lyon, is one of the more common ones
and while it often causes a neuropathy it also causes cardiac amyloid.
The Transthyretin gene is rather small and easy to screen but we could
also look at the fibrinogen gene for you.
What histopathology was done in addition to congo red staining? Any
immuno-staining?
Best wishes
Wolf Woltersdorf MD MRCP MRCPath
Locum Chemical Pathologist and Consultant Senior Lecturer
Canterbury Health Laboratories; PO Box 151
Christchurch/ New Zealand
Tel: (+64) 03-364 0325
Fax: (+64) 03-364 1460
Mobile: (+64) 027-467 7563
Email: [log in to unmask]
>>> Andrew Lyon <[log in to unmask]> 10/13/05 12:55a.m. >>>
I think that there isn't an easy answer for this request by the family.
If proceeding, I would confirm that immuno-stains had confirmed this
amyloid was not primary or secondary amyloid. Some cardiac amyloid
cases are associated with mutations to prealbumin (aka transthyretin)
and this could be testable, but may require coordination with the
genetic research labs involved in various parts of the world. ( I
believe a group in Portugal was quite active in these mutations).
I don't believe that all cardiac amyloids involve mutant prealbumin
however. A number of other proteins could form atrial amyloid deposits
and it may be quite a research project to initiate investigations to pin
down if there is risk to the rest of the family.
It's been a few years since I was involved in amyloid research and I
hope this advise is still accurate. The simple answer may be that there
is no convenient clinical test available.
regards, Andrew
Dr.A.Lyon, Univ. Calgary.
in reply to:
----- Original Message -----
From: "Vasikaran, Samuel" <[log in to unmask]>
Date: Tuesday, October 11, 2005 9:50 pm
Subject: Blood test for atrial amyloid
>
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