Hi David,

Although I don't have any known family history my Neuro Doctor wants to test me for FAP. The test kit is from "Athena Diagnostics" and is sent to ones home. Then one can either take the kit to a Quest Diagnostics location (they own Athena) or they can send someone to your home to draw the blood. Here's a link to Athena's site; http://www.athenadiagnostics.com/ And here's an interesting article I found about Amyloid Neuropathies; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531896/

I'm not sure there's adequate evidence in my case to warrant testing but she seems to think it's worth it. I'm not sure if I will proceed or not.

Cliffman

Hi Cliffman,

Thank you for this. Much appreciated. I'm waiting to hear from him about where he wants to do the testing. Once I know that, I can proceed. If it's a quality place with thorough testing, then we'll just proceed. This is a good resource. I also appreciate the article, which is a good look at the subject as a whole.

I'll speak to my neuro when he does call. How about you: if you don't have to pay for it/if insurance covers it, why not do it? I think non familial forms are possible in my case, but I don't know.

Be well!
Dave

There is a commentary on amyloidoses which are known to be associated with PN as well as other conditions here; http://neuromuscular.wustl.edu/nother/amyloid.htm.

My informed guess (it is no more than that) is that amyloidosis may be linked to PN more often than is currently suspected.

Where we go from here is not clear. There is good evidence from animal models that insoluble amyloid is relatively inert - what does the damage is soluble aggregates along the amyloid formation pathway. Currently there are no generic drugs which can block this process.

I tell ya David after reading about it I sure hope the test comes back negative! Yikes....

I have to find out if my insurance co. will cover it. Please let me know if you proceed in getting it done.

Thanks,
Cliffman

Kiwi,

Is there a non-generic drug in the works, some company working on something that has proven efficacious? On an entirely unscientific level, at least in respect of mechanism of action, I like to think that diet can make a huge difference here too, at least in non genetic forms.

No kidding! You and me both. I doubt I have Amyloidosis, but whether I acquired it via something infecting me, altering my body, etc., I can't say. I would be quite surprised if I had a familial form. And last I checked, those with Amyloidosis don't improve with dietary and other lifestyle, though it's not like there have been studies, or that I know of many cases or commentaries on the issue. My neruo will likely get back to me about this issue soon.

Thanks.

DavidHC, by far the most common amyloidosis is Alzheimer's Disease. Pharmaceutical companies are putting a lot of effort into finding drugs which can treat it because they know that effective drugs would be very lucrative for them.

Most of the other amyloidoses are so-called "orphan diseases" - they do not affect many people though I suspect that they are under-diagnosed including, possibly, in PN. Sadly, it is not in the commercial interests of pharmaceutical companies to put much effort into them.

In general amyloid formation goes like this:

(1) Native protein ---> partly unfolded protein.

(2) Partly unfolded protein ---> soluble aggregates (sometimes called protofibrils).

(3) Protofibrils ---> insoluble amyloid plaques.

Steps (1) and (2) differ for each amyloidogenic protein so it will be difficult to develop a generic drug which blocks them.

As far as diet is concerned some protofibrils can bind metal ions, particularly Cu and Fe ions - this can lead to oxidative damage in a tissue where amyloid formation is happening. This means that eating lots of fresh fruit and vegetables (good sources of natural antioxidants) is a good plan, quite apart from general health benefits.

Thanks for this information, Kiwi. Yes, the infamous amyloid beta protein. Makes sense. Sad, but true. I wonder what it would be like to live in a world where health care and treatment were not determined by capital...

Interesting and a shame that given the nature of the process, a general drug can't be used to block any such protein formation.

And now I know the science behind it. I'm not surprised nutrition can help. I've done wonders for myself just eating well. Actually, this reminds me of a study I read a few months back. This one: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1282589/. And now I'm reminded of this one: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367001/. I've been on a paleo ketogenic diet for several months, lots of healthy fats, proteins, and veggies.

Thanks again for this.

Okay, so I finally heard back from my neuro. He wants to go through Athena Diagnostics, and I believe this is the test they will do: http://athenadiagnosticsca.virtual.v...detail/q/id/99.

I was told that they would be doing the TTR DNA sequencing, that's all. Kiwi, in your expert opinion, will this be thorough enough, or no? I'm going to look over our past discussion to see which course they're taking and whether I can answer my own question.

Thanks in advance.

DavidHC, Athena have a good reputation.

What they propose doing is the "gold standard" approach.

PCR will amplify the DNA which contains your TTR genes and DNA sequencing will then show if you have any mutations in your maternal or paternal TTR genes and, if so, what they are.

This won't say anything about possible mutations in other amyloid-forming proteins which have been linked to PN.