After breakfast Saturday morning I headed to the meeting room to register early and get a good seat. Since I had seen the room the night before I knew where I wanted to sit, in a row near the front with the most leg room. So I claimed my seat and then went back up front to see if there were any other name tags I recognized as fibrinogen amyloidosis patients. The only one I saw was for Cathy T (the only liver-only transplant recipient for fibrinogen amyloidosis, as far as we know), who arrived shortly after I did. We were both attending the meeting solo this year (missed you Lon!), so we sat together and became the Fibrinogen Alliance.
The meeting started right on time at 8:00 AM with Muriel Finkel making some quick announcements before handing it over to Dr. Gertz from the Mayo Clinic in Rochester. Muriel did ask for a show of hands to see who was attending their fourth, third, second, or first familial meeting, and it looked like about half of the attendees were attending their first meeting. Based on what I think the attendance was at the four meetings (2009, 2011, 2013, 2015), it increases by about 40% each time. If that trend continues the 2017 meeting will have at least 350 attendees.
As I mentioned I will not try to summarize every presentation, but I will at least mention the items I specifically took notes on. If you want more information about the individual presentations, there are two helpful links.
First, the presentations themselves are gradually being made available at this temporary link: http://www.amyloidosissupport.org/support_groups/familial_temp.html. I believe the plan is to move those links over to the section of the Amyloidosis Support Groups web site titled "TTR & Familial" once all the presentations that are going to be available are posted.
Second, summary notes covering the Saturday presentations, taken by one of the attendees, are available at this link in a PDF file: http://files.ctctcdn.com/b2465c81401/3e266c20-d1ca-428b-8ef5-c8090c7b24b2.pdf
Moving right along, here are some of the notes I took during the meeting. Dr. Gertz showed a slide that gave the percentages of the various types of amyloidosis the patients seen at Mayo Clinic have been diagnosed with. (He probably mentioned what time period this covers, but I did not write that down.) AL amyloidosis accounts for about 62%, and ATTR accounts for about 24.5%. As if we did not already know how special we AFibbers are, fibrinogen amyloidosis patients account for only 0.63% of the amyloidosis patients seen at Mayo Clinic. Making a few assumptions and rough calculations based on some sketchy data in the back of my head, that works out to be about one person in 20 million in the US with fibrinogen amyloidosis, or 16 people total (including asymptomatic carriers like me). I am aware of nine in the US right now including myself, so statistically speaking there should be approximately seven lurkers in the US who have yet to introduce themselves.
After Dr. Berk of Boston University spoke about ATTR, Dr. Benson of Indiana University spoke about the non-ATTR variants, most of which cause renal issues. Dr. Benson brought up an important point about fibrinogen amyloidosis which we have heard before, but it is always good to repeat it since this is so important in differentiating fibrinogen from the other familial types. A liver transplant is probably curative for fibrinogen amyloidosis for two reasons:
- Fibrinogen is only produced in the liver, so no more mutant fibrinogen is produced after a liver transplant. With ATTR, although most of the transthyretin is produced in the liver, it is produced elsewhere in the body.
- Only mutant fibrinogen causes amyloid deposits. So once the source of the mutant fibrinogen is removed, the amyloid deposits do not increase. With ATTR it is different. Once the mutant transthyretin creates amyloid deposits, both mutant and "normal" transthyretin can add to those amyloid deposits. So removing the source of the mutant transthyretin does not stop the buildup of existing amyloid deposits.
The next presenter was Dr. Stern, a nephrologist from Boston University. This was the first time a nephrologist presented at the familial meeting. She discussed the basic function of the kidneys and explained how the kidneys and the heart work together. Once the kidney function has been affected by amyloidosis, it is best to avoid nephrotoxins (substances that are harmful to the kidneys) such as nonsteroidal anti-inflammatory drugs, IV contrast, herbal supplements, and sodium phosphate bowel preps such as Fleet products. (That reminds me, I need to schedule a colonoscopy early next year.) We will hear more from Dr. Stern during the afternoon breakout session.
Next up was Dr. Picken, a pathologist from Loyola University, who has authored or co-authored at least three of the articles that have been reviewed on this blog. One note I made during her presentation was that she strongly urged patients to request Congo Red staining for amyloid on any GI biopsies that are taken. (That reminds me, I need to schedule a colonoscopy early next year.) Staining GI biopsies for amyloid is probably more important for those with ATTR than AFib, but it still might be a worthwhile data point to have so it can be compared to the onset of kidney issues such as proteinuria or elevated creatinine.
The next presenter was Sarah Mets, a genetic counselor from Mayo Clinic. Her presentation first went over the basics of what a genetic mutation really is and why some matter and some don't. Then she discussed some of the points to consider when deciding whether or not to have genetic testing, such as being prepared to handle the results (positive or negative), how to talk to family members about it, and insurance considerations. Sarah Mets' presentation is available at the link near the beginning of this post. Unfortunately it is in PDF format instead of PowerPoint, which means some of the slides have several overlapping graphic elements such that you do not really see the slide presentation itself.
After the morning break, Dr. Weisman of Boston University spoke about neuropathy, which is usually not a concern for fibrinogen amyloidosis patients. Then we heard from Dr. Grogan of Mayo Clinic, who always gives an excellent presentation on the heart and how it is affected by amyloid deposits. The PDF version of her presentation does not include the excellent animations, but Mayo Clinic has some very good YouTube videos on cardiac amyloidosis starring Dr. Grogan. Just search for "Grogan Mayo amyloid" on YouTube and you will find them. Ok, here is a link to the first one: https://www.youtube.com/watch?v=o6u-nETEj9M.
The last presenter before lunch was Dr. Dispenzieri of the Mayo Clinic, who spoke about organ transplantation. Her presentation dealt primarily with ATTR, including the use of domino liver transplants, but the last few slides were on fibrinogen amyloidosis. One bullet point on one slide stated that among patients who get just a kidney transplant, the new kidney typically fails within 1 to 7 years, with only 5% surviving 10 years or more. She then discussed the data presented in the 2010 article by Stangou, et al, which I reviewed in the February 21, 2014 blog post. Out of the 22 patients described in that article, nine eventually received liver and kidney transplants, with five of those patients achieving long term survival. In the Conclusions slide of her presentation, she stated that for fibrinogen amyloidosis, liver plus kidney transplantation is best (when compared to kidney only.) I would agree that a liver plus kidney transplant gives a better long term outcome than a kidney only transplant, but with early detection a liver transplant (no kidney) might be the best option out of the three. The subject of liver only transplantation for fibrinogen amyloidosis was discussed in the breakout session Cathy T and I attended that afternoon, so you will have to wait for the next post for that.
Next up: Part 2