Tuesday, January 29, 2019

Happy New Year!!!!!!!

Welcome to 2019 everyone. In keeping with my tradition, there are seven exclamation points in the title (or subject line) since this is my seventh Happy New Year post in the history of this blog.

Here is what happened with the blog in 2018:

  • 4 new blog posts were written. (Down from 8 in 2017)
  • Two new articles were reviewed.
  • 5 additional countries visited the blog, bringing the total to 150.
  • The blog surpassed 100,000 all-time views in October.
  • The blog received 21 spam comments in 2018. The most interesting one mentioned Puerto Rican professional boxer Jose Pedraza, Spanish Formula One race car driver Fernando Alonso, and three national wildlife parks in India. It did all that in just three sentences.

In patient news, I know of one patient who had a combined liver and kidney transplant in 2018, and as I mentioned in the previous blog post, the third liver-only transplant for fibrinogen amyloidosis occurred in December. The use of liver-only transplants for fibrinogen amyloidosis is being covered more in the medical literature now, so that is good news. Speaking of good news, I continue to get my annual physical exam and I am still asymptomatic.

That's about it for 2018. I hope you all have a safe and healthy 2019.

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

As of December 31, 2018:

Total posts: 185 (1 in December)

Total pageviews: 110K (~2800 in December)

Email subscribers: 15 (unchanged)

Total number of countries that have viewed the blog: 150

No new countries viewed the blog in December.

Sunday, December 30, 2018

And then there were three

Happy Holidays, loyal blog readers. Hopefully you are all enjoying or recovering from the holidays.

This post was prompted not only by the fact that time is running out for me to average one post per quarter this year, but also by something exciting that recently occurred in the world of fibrinogen amyloidosis. Naturally I will cover a few less exciting things first, and save the best for last.

First, please be aware that registration is now open for the sixth Hereditary Amyloidosis Support Group Meeting that occurs every two years in Chicago. The dates for the 2019 meeting are Friday, October 25 through Sunday, October 27. Friday night is a dinner and meet-and-greet, Saturday is a full day of presentations by the doctors, and Sunday morning is a question and answer session where the doctors answer questions submitted by the attendees. 

The meeting will be held at the Hilton Chicago O'Hare Airport, which is very convenient because if you fly into O'Hare you can walk to the Hilton without even going outside. Links to register for the meeting (which is free) and to get the hotel group rate are here:


This meeting is a great opportunity to see presentations by and mingle with some of the most knowledgeable amyloidosis doctors in the world. Although the bulk of the meeting is geared toward patients with ATTR amyloidosis (hereditary or wild type), I still find it worthwhile to attend for several reasons, not the least of which is being able to meet other patients with the same disease. Here are links to my blog entries about the previous four meetings I attended:

2011: http://www.fibrinogenamyloidosis.com/2012/11/october-2011-familial-amyloidosis.html

2013: http://www.fibrinogenamyloidosis.com/2013/10/getting-to-2013-familial-support-group.html

2015: http://www.fibrinogenamyloidosis.com/2015/11/2015-familial-support-group-meeting.html

2017: http://www.fibrinogenamyloidosis.com/2017/11/2017-hereditary-amyloidosis-meeting.html

In other less exciting yet good news, I had some lab work done in September and I am still asymptomatic. My creatinine was 1.05 mg/dL and my estimated GFR was over 59. I am about ten years younger than my mother was when her first symptoms appeared, so I will probably be in wait-and-see mode for many years to come, hopefully forever.

In November I attended the local amyloidosis support group meeting in Charlotte, North Carolina. There were about 25 people in attendance, including patients, caregivers, and doctors. Although I know I am likely to be the only fibrinogen amyloidosis patient at these local support group meetings and most of the topics discussed will not apply to me, I still enjoy going to them because I always find it interesting listening to the doctors and hearing the stories of other patients.

One of the doctors at the November meeting gave what I thought was a very good answer to a question someone asked about kidneys healing. The question was about how well the kidneys recover after amyloid production in the body is stopped. We know different organs respond differently to not only the buildup of amyloid deposits but also to the removal of amyloid deposits. When the kidneys are damaged (scarred) by amyloid deposits, can they recover once amyloid production stops and the amyloid deposits are cleared, or are they scarred and therefore damaged for life? The doctor gave this analogy: Imagine a multi-lane highway where traffic is flowing smoothly and the roads are in good condition. That represents your kidneys functioning normally, without amyloid buildup. Now imagine a large boulder landing on this highway and not only blocking traffic in one or more lanes but also damaging the road. Think of that boulder as amyloid deposits and the reduced traffic flow as reduced kidney function. As long as that boulder is sitting on the highway, traffic flow is going to be reduced. But what happens when the boulder is removed? That will likely allow some improved traffic flow through the areas of the road that were not as badly damaged by the boulder, but some areas are so badly damaged that traffic flow through them will not get back to normal for a long time, if ever. And so it is with the kidneys. Kidney function will usually improve somewhat and then stabilize at some point after amyloid production is stopped (perhaps with continued very slow improvement), but it typically never returns to normal because some parts will never heal.

Speaking of kidneys, there was an interesting abstract presented in October of 2018 at ASN Kidney Week, an annual gathering of kidney professionals from around the globe put together by the American Society of Nephrology. The title of this abstract was "Role of Liver Transplantation in the Treatment of Fibrinogen A alpha-chain Amyloidosis." Here is a link to the abstract:


The abstract is not long at all, so I highly recommend reading the whole thing. It presents a case for considering liver transplantation curative for fibrinogen amyloidosis. After stating that isolated kidney transplants in AFib patients typically fail due to recurrent amyloid within 1 to 5 years, it presents data on 13 patients who received liver-kidney transplants and two who received only liver transplants. The data shows there is an obvious benefit to liver transplantation, especially for those patients who have not started dialysis. Here is the conclusion of the abstract:

The therapeutic potential of liver transplantation in fibrinogen amyloidosis is truly curative. Best transplant benefit from the addition of liver to kidney grafts was achieved in low risk pre-dialysis patients. Timely intervention in the pre-dialysis setting utilising liver transplantation alone is rational, feasible and effective. We support consideration of this approach to halt disease progression and prevent haemodialysis.

So although there is not much progress toward a drug treatment for fibrinogen amyloidosis due to the small number of patients, it is the only amyloidosis type that can be said to have a cure.

Now for the exciting news I mentioned at the beginning of this blog post. Do you remember that abstract you read about just a few seconds ago, the one presented in October during Kidney Week? It already needs to be updated because another patient received a liver transplant in early December. The only detail I will mention for now is that this patient had not started dialysis, so the prospects for a successful outcome are very good.

That makes three isolated liver transplants for fibrinogen amyloidosis patients now, with those transplants occurring in 2010, 2017, and 2018. Going forward, my hope is that as more patients are diagnosed early enough in the progression of the disease, more of them will consider a liver transplant before going on dialysis. If the doctors at the NAC in London ever start proposing liver transplants for AFib patients we will likely see many more, given the large number of patients with fibrinogen amyloidosis in the UK.

See you next year!

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

As of September 30, 2018:

Total posts: 184 (1 in September)

Total pageviews: 99,900 (~2100 in September)

Email subscribers: 16 (unchanged)

Total number of countries that have viewed the blog: 148

No new countries viewed the blog in September.

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

As of October 31, 2018:

Total posts: 184 (0 in October)

Total pageviews: 103,200 (~3000 in October)

Email subscribers: 15 (down by 1)

Total number of countries that have viewed the blog: 149

One new country viewed the blog in October:


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

As of November 30, 2018:

Total posts: 184 (0 in November)

Total pageviews: 108,000 (~4700 in November)

Email subscribers: 15 (unchanged)

Total number of countries that have viewed the blog: 150

One new country viewed the blog in November:


Sunday, September 30, 2018

I'm baaaack . . .

Hello, loyal fibrinogen amyloidosis blog followers. Long time, no see. I'm still here, alive and kicking, and I don't have any good excuses for the extended absence. Yes, I've been busy with life, the universe, and everything, but that's not much of an excuse. I don't think I will get back to a one post per month pace any time soon but maybe I can aim for one post per quarter.

In blog news, the total pageviews for the blog is rapidly approaching a major milestone: 100,000. It should reach that in the next day or two if it has not already. (It was within 100 of reaching it as of the morning of September 30.) At the end of this post I have the monthly blog stats for the past six months, in a consolidated format to make it a little easier to read in case anyone cares.

There is not much happening with me health-wise, which is good. I had some lab work done this past week but I do not have the results yet. If there is anything interesting in those results I will do a post for that.

In other patient news there is a lot happening in terms of transplants, so much in fact that I may not remember them all. I know of one person who had a combined liver and kidney transplant late last year and another who had the same thing in July. Both are doing well as far as I know. There is another person currently on the waiting list for a liver transplant, and this will likely be the third case ever of a liver-only transplant for fibrinogen amyloidosis.

I also became aware of another person diagnosed with fibrinogen amyloidosis earlier this year, and this particular case is interesting for two reasons. The first reason is the age of this patient when diagnosed: 37. The youngest age of onset of any of the other patients I am aware of is approximately 46, and I think the journal articles mention some cases of patients developing symptoms in their mid-40s. But 37 is definitely the youngest I can recall (for the Glu526Val mutation). As if that was not special enough, the other interesting thing about this case is that there is a long history of kidney disease in the family and they have Portuguese ancestry. You may recall there is a concentration of fibrinogen amyloidosis patients in the Braga district of Portugal. (My most recent blog post about that was in April of 2014.) As of the date of this blog post no other family members of this patient have been tested for the mutation, but I do not think anyone will be surprised if genetic testing does show it was inherited from a Portuguese ancestor.

Getting back to some specifics regarding this case, she was found to have elevated creatinine in September of 2017, was referred to a nephrologist, and had a kidney biopsy in November of 2017. That biopsy was positive for amyloidosis but the type could not be determined. She started hemodialysis in February of 2018, and in May the original kidney biopsy was typed by Mayo Clinic as fibrinogen amyloidosis, Glu526Val mutation (or p.Glu545Val using the new nomenclature). She is about to begin evaluation for liver and kidney transplant.

Lastly, I am sure we would all prefer to have treatment options other than organ transplants. Unfortunately the number of fibrinogen amyloidosis patients is so small that our best hope is that a treatment developed for other types of amyloidosis will be effective for us, since pharmaceutical companies tend to focus on diseases with larger patient populations. However, there may be some progress in that area. Some of you may be aware of a web site called My Amyloidosis Pathfinder (https://www.myamyloidosispathfinder.org/), also known as MAP, that is for patients with any type of amyloidosis. Once a patient registers on that site, they are notified of treatment centers and clinical trials best suited for their situation.

The Amyloidosis Research Consortium monthly newsletter for July had this to say about MAP:

Do you have a rare type of amyloidosis? MAP needs you.
Just by knowing about you, we can accelerate research in your type of amyloidosis. A number of companies have expressed an interest in developing products for some of the rarer types of amyloidosis, including AA amyloidosis, beta-2 microglobulin (AB2M) amyloidosis, ALect2 amyloidosis and localized amyloidosis, among others.

The more patients there are with a disease, the more likely a company is to develop a product for it. So if you have not already registered at MAP and set up a profile, I hope you will consider it even if you are just a carrier of the mutation without any symptoms. We are like the Whos from "Horton Hears a Who!," and each and every one of us needs to shout, "We are here! We are here! We are here!"

That's it for this post. See you next . . . month? quarter? year? 

=====Monthly Blog Status Update for March through August, 2018=====

As of August 31, 2018:

Total posts: 183 (1 in March)

Total pageviews: 97,800 (Monthly views: 1200, 1100, 6100 (includes 4600 in one day from Israel), 1000, 1500, 1500)

Email subscribers: 16 (gained one in April, one in June)

Total number of countries that have viewed the blog: 148

Three new countries have viewed the blog since February:


FYI, there is not a country named Macronesia but there is a Macaronesia.