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:





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 (, 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.

Saturday, March 31, 2018

Article Review (2012) - Amyloid diseases of the heart: Current and future therapies

It looks like I did not begin 2018 with one post per month, but maybe I can still finish the year with a total of 12 to get the average up to one per month. Since my last article review was published in August of 2016, I should probably start doing those again. I have not yet reviewed all the ones listed on the resources page and I have also found a few more that are not listed there. So this blog post will be my first article review in 18 months.

Before beginning the article review I thought I would mention that the XVIth (16th) International Symposium on Amyloidosis was recently held in Japan, and there were a couple of posters shown that were related to fibrinogen amyloidosis. One of the posters discussed the results of a small cohort of AFib patients (6) in Portugal who received kidney transplants. Although I have only seen a low-resolution picture of that poster, I suspect the results were mixed and showed rapid recurrence of amyloid in some of the transplanted kidneys, as we have seen in many of the articles I have previously reviewed.

The other poster I am aware of was titled "Fibrinogen A alpha-chain (AFib) renal amyloidosis: Is liver transplant alone sufficient? A case report." I have not yet seen a high-quality photo of that poster either, but from what I could tell of the picture posted in one of the Facebook groups, the case report was regarding the person with AFib who received a liver-only transplant at Mayo Clinic in March of 2017. The poster gave some data on this patient as recently as four months after the transplant, and it definitely showed improvement in kidney function. If I get a more readable version of that poster I will present some of that data in a future blog post.

The last bullet point in the Conclusions section of this poster was "Further studies are needed to assess long-term outcomes as well as the appropriate timing of the procedure during the course of the disease." Unfortunately there are only two patients available to study as far as we know, with one being the patient discussed in this case report and the other one being the patient who received a liver-only transplant in July of 2010. Hopefully earlier diagnosis and genetic testing of family members will lead to more AFib patients pursuing liver-only transplants in the near future.

Now to the article review . . .

Title: Amyloid diseases of the heart: Current and future therapies (1)

Authors: Dubrey, S. W. and Comenzo, R. L. (Hillingdon Hospital, Middlesex, UK; Tufts Medical Center, Boston, MA, USA)

Journal: QJM: An International Journal of Medicine (July 2012)


Amyloid diseases in man are caused by as many as 23 different pre-cursor proteins already described. Cardiologists predominantly encounter three main types of amyloidosis that affect the heart: light chain (AL) amyloidosis, senile systemic amyloidosis (SSA) and hereditary amyloidosis, most commonly caused by a mutant form of transthyretin. In the third world, secondary amyloid (AA) is more prevalent, due to chronic infections and inadequately treated inflammatory conditions. Much less common, are the non-transthyretin variants, including mutations of fibrinogen, the apolipoproteins apoA1 and apoA2 and gelsolin. These rarer types do not usually cause significant cardiac compromise. Occurring worldwide, later in life and of less clinical significance, isolated atrial amyloid (IAA) also involves the heart. Heart involvement by amyloid often has devastating consequences. Clinical outcome depends on amyloid type, the extent of systemic involvement and the treatment options available. An exact determination of amyloid type is critical to appropriate therapy. In this review we describe the different approaches required to treat this spectrum of amyloid cardiomyopathies.

Here is a link to the article:

After an introduction to the effects of amyloid on the heart and the methods of treatment, the article then has specific sections for each of the types of amyloidosis mentioned in the abstract. I will not cover any of those sections other than fibrinogen in this review.

The Fibrinogen Amyloidosis section of this article begins by stating nine fibrinogen mutations causing amyloidosis have been identified to date. (As of 2018, the number of mutations is 15 according to the data at It then presents some general information about fibrinogen amyloidosis we are very familiar with, such as the usual presentation being nephropathy leading to kidney failure if left untreated. It then mentions kidney transplantation as a treatment option, which usually leads to rapid recurrence of amyloid in the transplanted kidney.

In the section on combined liver and kidney transplantation for fibrinogen amyloidosis, the article mentions a study of nine patients in which six survived with good results. There is also a mention that a liver-only transplant may be an option to prevent progression of the disease to other organs. It does state that no patient has undergone a combined liver and heart transplant for AFib.


There is not really any new information in this article that has not been covered in previous articles. We know fibrinogen amyloidosis initially affects kidney function, but in the later stages of the disease it can affect other organs such as the spleen, liver and heart. But I am aware of only one documented case of significant cardiac involvement in a patient with fibrinogen amyloidosis. That case was described in a 2008 article in the New England Journal of Medicine, which I reviewed in the blog on January 6, 2014. Oddly enough, that 2008 NEJM article was not listed among the references for this 2012 article for some reason.

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

As of January 31, 2018:

Total posts: 182 (1 in January)

Total pageviews: 82,800 (~1600 in January)

Email subscribers: 14 (unchanged)

Total number of countries that have viewed the blog: 145

No new countries viewed the blog in January.


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

As of February 28, 2018:

Total posts: 182 (0 in February)

Total pageviews: 84,700 (~1900 in February)

Email subscribers: 14 (unchanged)

Total number of countries that have viewed the blog: 145

No new countries viewed the blog in February.



(1) Dubrey SW, Comenzo RL. Amyloid diseases of the heart: current and future therapies. QJM. 2012;105(7):617-631.

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.