Saturday, November 11, 2017

2017 Hereditary Amyloidosis meeting - Saturday

Hello again, loyal blog readers. Are you shocked to see two posts in two days? I decided to publish my blog posts about the Chicago meeting over the course of three days, just like the meeting. So it is sort of like live-blogging, but two weeks after the event.

After breakfast Saturday morning (October 28) I headed to the Grand Ballroom for the meeting. I arrived about 40 minutes before the scheduled start time of 8:00 AM, and here is what the meeting room looked like from the back of the room:

As you can see, it was almost wall-to-wall chairs. I don't think the rows went that far back for the 2015 meeting. Not counting the partial rows of chairs where that screen was set up on the left side, I counted 18 rows of 22 chairs this time, which is 396. Add to that at least six rows of 11 chairs where the screen was, and now we're up to at least 462 chairs. That's a lot of chairs, and as you can see from a picture I took later in the day, they were needed.

I was also able to get some pictures of the dais at the front of the room before any of the doctors arrived.

(Note: As of the writing of this blog post the presentations from the meeting have not been posted online. If and when they are made available, I will update this post and also mention it in the next new blog post.)

After the introductory remarks by Muriel Finkel and Dr. Gertz, Dr. Benson gave the first presentation of the meeting. His topic was nomenclature, which is an appropriate topic for him to discuss because he is on the amyloidosis nomenclature committee. In my December 31, 2016 blog post I mentioned some changes recommended by the nomenclature committee in 2016. One of those was to use the term hereditary amyloidosis to refer to amyloidosis due to a mutation in the fibril protein itself, which is the case in fibrinogen amyloidosis. Dr. Benson did not discuss that in his presentation, but he did discuss the recommended change (which I don't see in the article I linked to in the December 31, 2016 blog post) in the numbering scheme for hereditary amyloidosis mutations.

The number typically used in the designation of a mutation is referring to the position of the change in the mature protein. But Dr. Benson explained that when a protein is initially created, there is a short section of it called the signal peptide that gets removed as the protein leaves the cell to go into the body and do its job. Dr. Benson only discussed the TTR protein, in which the signal peptide has a length of 20 amino acids. So the number used when referring to a position in the complete TTR protein (with the signal peptide) would be 20 more than the number used when referring to the mature protein (without the signal peptide). He didn't discuss the other amyloid proteins such as fibrinogen, lysozyme, etc., so keep that in mind for the next blog post.

The next presentation covered TTR amyloidosis (both mutant and wild type), and then the one after that was Dr. Berk's presentation on the non-ATTR varieties. Here are the notes I took during the fibrinogen portion of his presentation:

 - The annual decline in GFR for AFib patients is approximately 11.2. (In the past I had heard that 15 was the estimated annual decline.)

 - Biopsy slides of kidneys impacted by AFib show clear glomerular involvement. (We have seen that in medical journal articles I reviewed previously in the blog.)

 - One of the slides presented the data on transplant outcomes for AFib from one of the articles by the NAC in London. This was probably the 2009 article I reviewed in the January 12, 2014 blog post, so no real surprises there. The main takeaway from that data is a kidney transplant by itself will likely result in the transplanted kidney developing amyloidosis almost certainly within ten years, sometimes within a year or two. A combined liver-kidney transplant yields better results, but there are increased risks associated with that option.

 - Dr. Berk also mentioned that there was one patient (not part of the NAC study) who had received a liver-only transplant for AFib before going on dialysis, and was still alive seven years post-transplant. (He did not mention that the patient was sitting next to me at the time.)

There was a question and answer session after Dr. Berk's presentation, and Cathy T. asked how the US experience with organ transplants compares with the experience in the UK. The answer, unfortunately, is that nobody knows because the experience in the US is not consolidated anywhere. In the UK, all amyloidosis patients are referred to the NAC so it is much easier to collect information on all of the AFib patients there.

The next presenter was a genetic counselor from Mayo Clinic. I always enjoy these presentations because I get a little more out of each one and they always help me understand how others may feel about genetic testing. There were three items I made a note of during this presentation. First was the importance of having open communication among family members. The second was when the counselor talked about putting together a family letter to communicate to the potentially affected family members. If you go back to the entries in this blog from right after Mom was diagnosed with AFib, you'll find the family letter I put together to send to her cousins. The third item I made a note of was a recommendation from the counselor to identify the communicator in the family, which would be the person in the family with the most information about the disease and the ability to communicate with everyone who needs to be kept informed. I suppose I jumped right into that position when Mom was diagnosed.

Next was Dr. Picken, a pathologist who spoke about methods of diagnosing amyloidosis, and then Dr. Grogan, a  cardiologist from Mayo Clinic. A topic that generated some discussion in her presentation was a test called the PYP scan that is being used to diagnose amyloid involvement in the heart.

Next was Dr. Waddington-Cruz from Brazil with a presentation on neuropathy, followed by Dr. Clarke on gastrointestinal issues and Dr. Dispenzieri on solid organ transplants. Very little if any from those presentations was applicable to AFib.

Then it was time for lunch. That was a very full morning, wasn't it?

After lunch there were presentations by four different pharmaceutical companies on the status of some of the clinical trials underway for drugs intended to help ATTR patients. The good news is that there is some real progress being made in that area. The bad news is that none of these drugs currently in clinical trials will benefit AFib patients since they are intended to prevent or dissolve the buildup of TTR amyloid fibrils. The next presenter was Dr. Berk again who discussed a few other treatments that were not in clinical trials. Regarding doxycycline, which Boston University did study in a clinical trial, he said they did not see much benefit and there were some adverse effects.

After those presentations we divided into five breakout sessions, where different rooms are set up to discuss different topics and attendees can go to the room or rooms of their choosing. Cathy, Lon and I went to the session titled "Genetic Issues and Non-ATTR variants." There was some good discussion of the issues surrounding genetic testing, especially with regard to children and young adults. We did not ask any questions about fibrinogen amyloidosis, but some of the other people with non-ATTR variants did ask some questions about those.

That concludes the meeting agenda for Saturday. We have already answered the first question posed at the end of the previous blog post. Yes, all of this year's attendees did fit in the Grand Ballroom. But what about the second question? Did my wife brave the cold and go back to downtown Chicago on Saturday? No she did not. I can't say that I blame her, either. It was cold.

Next up is the Sunday Question and Answer session.

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