Tuesday, January 30, 2018

Happy New Year!!!!!!

Welcome to 2018 everyone. In keeping with my tradition, there are six exclamation points in the title since this is my sixth Happy New Year post in the history of this blog.



Here is what happened with the blog in 2017:

  • 8 new blog posts were written. (Down from 11 in 2016)
  • No new articles were reviewed.   :-(
  • 13 additional countries visited the blog, bringing the total to 145.
  • The blog received 13 spam comments in 2017, two of which complimented me on my excellent use of colors in the design of the blog.

The big news in the world of fibrinogen amyloidosis this year, which I mentioned in the December 31, 2017 post, is that another liver-only transplant for fibrinogen amyloidosis was performed in March of 2017.

In personal news, my problem with anemia that was being investigated in 2016 is definitely behind me, and I remain asymptomatic as of August of 2017. The really big non-medical news for me in 2017 was a move from Texas to North Carolina in June. That kept me rather busy and was a handy excuse to keep from spending much time on the blog, so now that we are settled in I can hopefully get back to publishing an article monthly or almost monthly.



=====Monthly Blog Status Update=====

As of December 31, 2017:

Total posts: 181 (1 in December)

Total pageviews: 80,900 (~5800 in December, thanks to another spike of ~4500 in one day from Israel)

Email subscribers: 15 (unchanged)

Total number of countries that have viewed the blog: 145

No new countries viewed the blog in December.
=====

Sunday, December 31, 2017

Charlotte Support Group Meeting: November 18, 2017

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, 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.