End-of-year greetings, loyal blog readers. In this post I have some exciting news in the world of fibrinogen amyloidosis, followed by a report of a local support group meeting, some interesting data I recently gathered, and finally the oh-so-exciting monthly blog stats.
First, the exciting news. In November, shortly after I returned from the hereditary amyloidosis support group meeting in Chicago, I learned that another liver-only transplant for fibrinogen amyloidosis occurred in March of 2017 at Mayo Clinic. As far as I know, this is only the second liver-only transplant ever for fibrinogen amyloidosis, with the first one occurring in 2010. The most recent transplant recipient is a female in her early 50s who initially presented with proteinuria in August of 2015. She is currently doing very well post-transplant. The outcome of this case will be very important to patients in a similar position in the future, since this transplant occurred relatively early in the progression of the disease. I may have some more to say about this particular case in the near future as part of a larger discussion about organ transplants for fibrinogen amyloidosis.
On Saturday, November 18 I attended the amyloidosis support group meeting in Charlotte, North Carolina. But David, don't you go to the Dallas support group meetings? Well, not any more since we moved to North Carolina this summer. The closest support group meeting to me now is in Charlotte, and currently those are held once per year. At this meeting there were two local doctors from Levine Cancer Institute, and Dr. Eli Muchtar from Mayo Clinic in Rochester. I think there were around 45 people in attendance at this meeting, and almost all patients had AL or ATTR. I think there were one or two patients with localized amyloidosis (including the facilitator), and I was the only one with a rare hereditary type.
Now, the interesting data I recently gathered has to do with the number of other people I have been in contact with who also have fibrinogen amyloidosis. I first became aware of fibrinogen amyloidosis when my mother was diagnosed in 2010, and I started this blog in 2012, so I've been in contact with many patients with AFib through the blog and various other web sites over the past seven years. But I did not realize how many until I started going through some old emails and consolidating that information. I will use the term "kindred" here instead of "family." (People in the same kindred are biologically related, whereas people in the same family can be related biologically or by other means such as marriage or adoption.) Not counting my own kindred, I have been in contact with people from 12 other kindreds in which at least one person has been diagnosed with fibrinogen amyloidosis. I believe seven of these kindreds are based primarily in the US and the other five are based primarily in the UK.
There is another large kindred in the UK (Scotland) I have not been in contact with but am somewhat familiar with because their story has been told in at least three separate articles on the internet (see below). You won't see the word "fibrinogen" in any of those articles, but some excellent detective work by somebody (not me) did uncover the fact that fibrinogen amyloidosis is the type this family has.
http://www.eveningtimes.co.uk/news/13271564.Help_beat_the_disease_that_killed_my_mum__aunt__uncle_and_grandfather/
http://www.dailymail.co.uk/news/article-3425394/Four-members-family-killed-genetic-condition-surviving-relatives-chance-suffering-too.html
https://www.sundaypost.com/news/scottish-news/one-by-one-our-family-is-dying-from-a-deadly-genetic-defect-as-survivors-agonise-over-test-choice/
On a separate note, I received an email this week announcing that the 2019 Hereditary Amyloidosis Support Group Meeting will be October 25, 26 and 27 in Chicago. So mark your calendars. (If you have a 2019 calendar.)
That's it for 2017. I'll see you all next year.
=====Monthly Blog Status Update=====
As of November 30, 2017:
Total posts: 180 (3 in November)
Total pageviews: 75,100 (~1300 in November)
Email subscribers: 15 (unchanged)
Total number of countries that have viewed the blog: 145
One new country viewed the blog in November:
Belize
=====
Sunday, December 31, 2017
Sunday, November 12, 2017
2017 Hereditary Amyloidosis meeting - Sunday
Today's post will cover the last day of the 2017 Hereditary Amyloidosis support group meeting in Chicago. The Sunday agenda is always just half a day, with the doctors answering questions submitted by attendees. The session is moderated by Dr. Gertz, who goes through the stack of questions and decides which questions to ask and which doctor or doctors to give the questions to. I have submitted questions in the past for the Sunday session, and I submitted a two-part question this time as well.
If you recall from my blog post about the Saturday presentations, Dr. Benson did discuss the difference in numbers (when referring to a specific mutation) when the full length of the protein (including the signal peptide) is considered vs. when the length of the mature protein is considered (not including the signal peptide). He discussed the length of the signal peptide for transthyretin (TTR) which is 20, meaning you just add or subtract 20 to get from one number to the other. But he did not mention the signal peptide length of the other proteins that can cause hereditary amyloidosis, such as fibrinogen, lysozyme, apolipoprotein, or gelsolin. When the report from the nomenclature committee came out last year I looked up somewhere that the length of the signal peptide for fibrinogen was 19, not 20 like TTR. I don't recall what the length is for the other rare ones, but if I remember correctly they are not 20 either. Since I would not want anyone leaving the meeting thinking their signal peptide length was 20 when it is really something else (knowing very well that I was probably the only person there who cared), I submitted two related questions:
Question 1: What is the signal peptide length of the amyloidogenic proteins other than TTR?
I was hoping the question would go to Dr. Benson and he would say the signal peptide length is 20 for TTR but it is 19 for fibrinogen, xx for apolipoprotein, yy for lysozyme, etc., and then talk about how confusing it will be to get everyone on the same page. That leads to my second question:
Question 2: Will Dr. Benson promise not to retire before everyone is comfortable with the new recommendations of the nomenclature committee?
For those of you who don't know, Dr. Benson is probably past normal retirement age. He received his bachelor's degree in 1961 and his MD in 1965, so he has been practicing medicine for over 50 years. Given his expertise and experience, especially in discovering many of the mutations that cause hereditary amyloidosis (including some of the fibrinogen mutations), his retirement will likely have a huge impact on both patients and doctors in the amyloidosis community. So my second question was obviously intended to bring a little levity to the proceedings. Dr. Benson has a very quick wit and a dry sense of humor, so I felt certain he would have an entertaining answer to the question.
With so many attendees at this year's meeting, Muriel announced before the session started that if they did not get to all of the questions they would try to get answers later and make those answers available in a document they would let everyone know about. Typically she will publish all of the answers from the Q and A session, but as of this writing she has not. If and when she does I will update this post and also mention it in the next new post.
So the Question and Answer session starts Sunday morning, with Dr. Gertz reading the questions out loud and then having the appropriate doctor answer them. As usually happens during the Sunday session, some doctors need to leave before the session is over at noon in order to catch their flights back home. As the morning went on, a few doctors got up from their seats in the front of the room and started walking down the center aisle toward the exit at the back. Dr. Gertz would notice the doctor leaving and say something like "Thanks to Dr. So-and-so," prompting the audience to give that doctor a round of applause. Well, much to my surprise, Dr. Benson got up and left at some point before 10 AM. That, of course, means my first question will either not be asked at all or will be answered by one of the other doctors. And if Dr. Benson is not there, there is no point in asking my second question. Well, that was a missed opportunity.
Although most of the questions asked during the Sunday session do not relate to fibrinogen amyloidosis because many of them are questions about symptoms typically not associated with AFib or questions about the drugs for ATTR currently in clinical trials, I do enjoy the Sunday session anyway since I find most of the topics discussed very interesting and informative. It is also interesting to hear different doctors respond to the same question as they all have their unique perspective.
Then much to my surprise, about 20 minutes before the scheduled noon end time, Dr. Gertz must have gotten to the sheet of paper with both of my questions. I heard him read my second question first, somewhat quickly and quietly to himself, and he got a little chuckle out of it. Then he said something about the next question (referring to my Question 1) being for Dr. Benson but he has already gone. A couple of people then spoke up and said Dr. Benson was actually still there, and lo and behold he did make his way from the back of the room to a microphone stand in about the middle of the aisle.
Dr. Gertz asked Dr. Benson my first question about the signal peptide lengths, and he gave a long answer that went into some of the science behind what actually happens with the signal peptide. But he did eventually get around to the point that with TTR it's easy to do the math because you just add 20, whereas with something like fibrinogen "I have to get out my calculator because I have to add 19." I don't think he mentioned the lengths of any of the others, but I was glad he at least confirmed what I thought I knew about fibrinogen. Unfortunately Dr. Gertz did not ask Dr. Benson my second question at this point, which is too bad. He was probably trying to get a few more questions answered since he was running out of time.
Since the subject of nomenclature and this numbering scheme can lead to some confusion due to the different ways a genetic mutation can be written (I have seen the most common AFib mutation written at least three different ways in published medical journal articles), I will go over that in a separate post.
Around noon the meeting ended and we all had lunch, which included cookies for dessert because Dr. Benson had asked Muriel Finkel specifically for that. Cathy and I then said our goodbyes to Cathy T. and Lon before heading to the airport to catch our flight back home. We had a few hours before our flight, so I took Cathy on the full tour of O'Hare Airport since she had never been there before. If you ever have time to walk around inside O'Hare Airport in Chicago, do it. Much of it is just like any other airport, but there are a few interesting things to see.
That wraps up the 2017 Hereditary Amyloidosis meeting in Chicago. There was an evaluation sheet we completed after the meeting, and one of the questions asked where we would like to see the next meeting held in 2019. The choices were Chicago, Phoenix, Baltimore, Jacksonville, and Salt Lake City. I will be surprised if Muriel has it some place other than Chicago, but I suppose she is open to the idea since she asked the question. I plan on being there, wherever it is.
If you recall from my blog post about the Saturday presentations, Dr. Benson did discuss the difference in numbers (when referring to a specific mutation) when the full length of the protein (including the signal peptide) is considered vs. when the length of the mature protein is considered (not including the signal peptide). He discussed the length of the signal peptide for transthyretin (TTR) which is 20, meaning you just add or subtract 20 to get from one number to the other. But he did not mention the signal peptide length of the other proteins that can cause hereditary amyloidosis, such as fibrinogen, lysozyme, apolipoprotein, or gelsolin. When the report from the nomenclature committee came out last year I looked up somewhere that the length of the signal peptide for fibrinogen was 19, not 20 like TTR. I don't recall what the length is for the other rare ones, but if I remember correctly they are not 20 either. Since I would not want anyone leaving the meeting thinking their signal peptide length was 20 when it is really something else (knowing very well that I was probably the only person there who cared), I submitted two related questions:
Question 1: What is the signal peptide length of the amyloidogenic proteins other than TTR?
I was hoping the question would go to Dr. Benson and he would say the signal peptide length is 20 for TTR but it is 19 for fibrinogen, xx for apolipoprotein, yy for lysozyme, etc., and then talk about how confusing it will be to get everyone on the same page. That leads to my second question:
Question 2: Will Dr. Benson promise not to retire before everyone is comfortable with the new recommendations of the nomenclature committee?
For those of you who don't know, Dr. Benson is probably past normal retirement age. He received his bachelor's degree in 1961 and his MD in 1965, so he has been practicing medicine for over 50 years. Given his expertise and experience, especially in discovering many of the mutations that cause hereditary amyloidosis (including some of the fibrinogen mutations), his retirement will likely have a huge impact on both patients and doctors in the amyloidosis community. So my second question was obviously intended to bring a little levity to the proceedings. Dr. Benson has a very quick wit and a dry sense of humor, so I felt certain he would have an entertaining answer to the question.
With so many attendees at this year's meeting, Muriel announced before the session started that if they did not get to all of the questions they would try to get answers later and make those answers available in a document they would let everyone know about. Typically she will publish all of the answers from the Q and A session, but as of this writing she has not. If and when she does I will update this post and also mention it in the next new post.
So the Question and Answer session starts Sunday morning, with Dr. Gertz reading the questions out loud and then having the appropriate doctor answer them. As usually happens during the Sunday session, some doctors need to leave before the session is over at noon in order to catch their flights back home. As the morning went on, a few doctors got up from their seats in the front of the room and started walking down the center aisle toward the exit at the back. Dr. Gertz would notice the doctor leaving and say something like "Thanks to Dr. So-and-so," prompting the audience to give that doctor a round of applause. Well, much to my surprise, Dr. Benson got up and left at some point before 10 AM. That, of course, means my first question will either not be asked at all or will be answered by one of the other doctors. And if Dr. Benson is not there, there is no point in asking my second question. Well, that was a missed opportunity.
Although most of the questions asked during the Sunday session do not relate to fibrinogen amyloidosis because many of them are questions about symptoms typically not associated with AFib or questions about the drugs for ATTR currently in clinical trials, I do enjoy the Sunday session anyway since I find most of the topics discussed very interesting and informative. It is also interesting to hear different doctors respond to the same question as they all have their unique perspective.
Then much to my surprise, about 20 minutes before the scheduled noon end time, Dr. Gertz must have gotten to the sheet of paper with both of my questions. I heard him read my second question first, somewhat quickly and quietly to himself, and he got a little chuckle out of it. Then he said something about the next question (referring to my Question 1) being for Dr. Benson but he has already gone. A couple of people then spoke up and said Dr. Benson was actually still there, and lo and behold he did make his way from the back of the room to a microphone stand in about the middle of the aisle.
Dr. Gertz asked Dr. Benson my first question about the signal peptide lengths, and he gave a long answer that went into some of the science behind what actually happens with the signal peptide. But he did eventually get around to the point that with TTR it's easy to do the math because you just add 20, whereas with something like fibrinogen "I have to get out my calculator because I have to add 19." I don't think he mentioned the lengths of any of the others, but I was glad he at least confirmed what I thought I knew about fibrinogen. Unfortunately Dr. Gertz did not ask Dr. Benson my second question at this point, which is too bad. He was probably trying to get a few more questions answered since he was running out of time.
Since the subject of nomenclature and this numbering scheme can lead to some confusion due to the different ways a genetic mutation can be written (I have seen the most common AFib mutation written at least three different ways in published medical journal articles), I will go over that in a separate post.
Around noon the meeting ended and we all had lunch, which included cookies for dessert because Dr. Benson had asked Muriel Finkel specifically for that. Cathy and I then said our goodbyes to Cathy T. and Lon before heading to the airport to catch our flight back home. We had a few hours before our flight, so I took Cathy on the full tour of O'Hare Airport since she had never been there before. If you ever have time to walk around inside O'Hare Airport in Chicago, do it. Much of it is just like any other airport, but there are a few interesting things to see.
That wraps up the 2017 Hereditary Amyloidosis meeting in Chicago. There was an evaluation sheet we completed after the meeting, and one of the questions asked where we would like to see the next meeting held in 2019. The choices were Chicago, Phoenix, Baltimore, Jacksonville, and Salt Lake City. I will be surprised if Muriel has it some place other than Chicago, but I suppose she is open to the idea since she asked the question. I plan on being there, wherever it is.
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.
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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