Saturday, December 31, 2016

Familial or Hereditary?

Hello, loyal blog readers. This final post of the year will have an update on my health and a few other minor things going on in the world of amyloidosis.

First, it looks like I may not have a type of familial amyloidosis after all. I may actually have a type of hereditary amyloidosis instead. "But David, isn't familial the same thing as hereditary?" Generally speaking those two terms are synonymous and often used interchangeably. However, in terms of describing amyloidosis it turns out there is a need to make a distinction between the two.

According to the article Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification: International Society of Amyloidosis 2016 Nomenclature Guidelines (1), in July of 2016, the Nomenclature Committee of the International Society of Amyloidosis met to make recommendations regarding the nomenclature for amyloid fibril proteins and the clinical classification of the amyloidoses. These recommendations are necessary to standardize how to refer to the various types of amyloidosis. For instance, this committee recommended that the term "senile systemic amyloidosis" be replaced with "wild-type ATTR amyloidos" now that the wild-type TTR protein is known to be the cause of that disease.

Regarding "familial" vs. "hereditary" the committee made the following recommendation:

The terms “hereditary amyloidosis” and “familial amyloidosis” refer to different entities. The term “hereditary amyloidosis” should be used when there is a mutation in the fibril protein gene itself, e.g. ATTR, ALys or AFib. The term “familial amyloidosis” should be used when the syndrome occurs in a familial setting due to mutations in genes expressing non-amyloid proteins, e.g. AA amyloidosis.

So if the mutation is in a gene that expresses an amyloid protein, such as fibrinogen, that is considered hereditary amyloidosis. On the other hand, if the mutation is in genes that do not express amyloid proteins, that is considered familial amyloidosis. I do not know enough about what are now considered familial types to go into any more detail on those or discuss how they differ from hereditary types like AFib, so I will just leave it at that and try to use "hereditary" instead of "familial" going forward.


Speaking of familial, I mean hereditary amyloidosis, the next meeting in Chicago has been scheduled for October 28 and 29 of 2017. You can find more information about this meeting and register for it at this link: http://amyloidosissupport.org/support_groups/familial.html. I plan on arriving Friday, October 27, in time for the Friday night meet and greet.

Regarding my health, you may recall from the previous blog post that in October my hemoglobin had increased to 14.3 (within normal range) and my ferritin had increased to 15 (still a little low). I continued taking two iron supplements per day and saw my hematologist, Dr. C, on December 16. My hemoglobin increased to 15.3 and my ferritin increased to 28.1. The normal range for ferritin is 22 to 415, so my ferritin was back in the normal range, as were all the other measurements of things like red blood cell size. So I am going to stop taking the iron supplements on January 1 and see where my numbers are at my annual physical exam in February of 2017.

Next month's post will be the 2016 wrap-up.

=====Monthly Blog Status Update=====
As of November 30, 2016:

Total posts: 172 (1 in October)

Total pageviews: 51,400 (~1300 in November)

Email subscribers: 14 (unchanged)

Total number of countries that have viewed the blog: 132

One new country viewed the blog in November:

Bosnia & Herzegovina
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(1) Sipe JD, Benson MD, Buxbaum JN, et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid. 2016;23(4):209-213.

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