Thanks, Kiwi. My neuro will soon test me for it. I'm not too concerned that I have it, but my uncle and father are simultaneously exhibiting some issues that overlap, though no neuropathy I think. I just skimmed the article but will sit down and read it when I get a chance tomorrow. Given that you're working on this, perhaps I can ask you this in advance: how accurate will the genetic testing that my neuro will do be? Should I also push for a fat pad biopsy?
My own worry is that it could be Amyloidosis, but perhaps not familial. Thanks in advance.
Quote:
Originally Posted by kiwi33
My students and I have done a fair bit of work on the basic science of the TTR amyloidoses, including a number of published papers.
Familial amyloid polyneuropathy (FAP) is usually associated with the L55P mutation (very aggressive) and sometimes the V30M (less aggressive) mutation in the TTR gene.
As the article says, FAP is an autosomal dominant condition which means that somebody only need to inherit one copy of the mutant gene to get it. It is very uncommon, mainly affecting kindreds from Sweden and Portugal.
In practical terms, what this means is that somebody who is at risk of FAP will have a strong family history of it (sporadic amyloidogenic mutations in the TTR gene are extremely rare).
If there is no family history then there is nothing to worry about.
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