Sunday, November 4, 2012

August/September 2010 - Notifying the Cousins

After notifying the close relatives about Mom's diagnosis of fibrinogen amyloidosis, I made it my mission to get the word out to her more distant relatives. That letter was a bit of a challenge to write, since I had to not only be concise in defining "amyloidosis," "familial amyloidosis," and "fibrinogen amyloidosis," I also had to introduce myself and explain where Mom and I fit in the family tree. Plus, I wanted to give the family members some practical steps to take, so they wouldn't be left in limbo wondering what to do after finding out they may have a rare hereditary disease. Eventually I got the letter to the point where I was happy with it. Without further ado, here's the letter that was sent to various cousins in August and September of 2010, followed by some additional comments:


All Amyloids in the Family

This note is to inform you that a rare hereditary disease has been diagnosed in one of the grandchildren of Arrie and Selma Mordecai. It is unknown at this time if the disease, which is a slowly progressing disease that impacts the kidneys, was inherited through either Arrie or Selma, or through the other set of grandparents. The rest of this note will explain who has it, what it is, how it is treated, how it is inherited, and what you need to do about it at this point.

Who was diagnosed?

My name is David Jennings. My mother is Linda Sue Jennings. Her father was Marshall Mordecai, the oldest child of Arrie and Selma Mordecai. My mother Linda was diagnosed in July of 2010 at the age of 69 with a disease called fibrinogen amyloidosis. Right now she has reduced kidney function, but she feels fine and has no symptoms related to her kidneys that significantly affect her daily activities.

What is amyloidosis?

Amyloidosis is a family of diseases in which the body incorrectly manufactures certain proteins, called amyloids, which the body is then unable to process. These amyloids end up accumulating in one or more organs, eventually causing damage. About 3000 people per year are diagnosed with amyloidosis in the US.

Different organs can be impacted depending on the specific type of amyloidosis a person has. There are four main types of amyloidosis, and only about 10% of amyloidosis cases are a hereditary type, which is called familial amyloidosis.

There are over 100 specific gene mutations that have been discovered to cause familial (hereditary) amyloidosis. Linda has the one caused by a fibrinogen mutation, so it is called fibrinogen amyloidosis. To help keep the terminology straight: Fibrinogen amyloidosis is a specific form of familial amyloidosis, and familial amyloidosis is one of the four main types of amyloidosis.

Here is what I think I know about fibrinogen amyloidosis. Keep in mind that I am not a doctor:

- The amyloids (abnormal proteins) are produced in the liver.

- The kidneys are usually the only affected organ, with no significant symptoms until after middle age.

- Some people with the gene mutation never develop significant kidney problems at all, even into their senior years. (Linda’s parents lived to the ages of 76 and 85, with no known history of kidney problems.)

- This type of amyloidosis typically has a much slower progression rate than the more common types of amyloidosis.

What is the treatment for fibrinogen amyloidosis?

As of 2010 there are no medicines developed to treat this particular type of amyloidosis. Treatment options include:

- Do nothing, which means the kidneys will slowly get worse (lots of factors involved there), eventually leading to a need for dialysis.

- Get a liver transplant, which stops production of the amyloids. The damage has already been done to the kidneys, but there is no further damage due to amyloids once the amyloid-producing liver is replaced.

- Get a kidney transplant, replacing one or both kidneys. This option typically has good results because it takes many years for the new kidney(s) to be affected by the amyloids still being produced by the original liver.

- Get a combination liver and kidney transplant.


Since Linda was only recently diagnosed, we have not begun the process to determine if she is a good candidate for a transplant. Even if she is a good candidate, there is much to consider before deciding whether or not to have a transplant for a situation that is not life-threatening right now.

How is fibrinogen amyloidosis inherited? What are the chances I inherited it?

The gene mutation that causes fibrinogen amyloidosis is passed from one parent to a child, and there is a 50% chance that a child will inherit this gene from a parent. The genders of the parent and the child are not a factor. The mutation cannot skip a generation, but the symptoms can. Genetic testing can determine if a person has the mutation.

What do I need to do about it?

We do not know at this time whether Linda inherited this gene from her mother or father, and until a family member tests positive on either side we will not know for certain. Linda’s mother (Eloise) was an only child, so we have to go up another generation to find more distant family members on that side who may have inherited it. This does not mean everyone needs to immediately have genetic testing done, but there are some things you need to tell your doctor. Here is what I recommend:

- Tell your doctor at your next regular visit there is a chance you have inherited fibrinogen amyloidosis. Do not be surprised if your doctor does not know what you are talking about, since many doctors have never seen a patient with amyloidosis, and fibrinogen amyloidosis was only discovered in 1993. Your doctor may have to do some research before being able to discuss it with you.

- Tell your doctor to be on the lookout for signs of kidney trouble, especially proteinuria (excessive protein in the urine) or elevated creatinine levels. Although those can be symptoms of many other conditions, either one of them would justify having the genetic testing done to determine if you have this hereditary form of amyloidosis.

Genetic testing for this condition requires analysis of blood samples at a genetic testing laboratory. Attached is a form for having blood samples sent to Boston University, which is where Linda was evaluated in June of 2010. The current cost of this test is $450. They do not file an insurance claim on behalf of the patient, but your doctor may be able to file a claim for reimbursement if the testing is covered by your health insurance. I am sure there are other labs around the country that can also do this testing, but I have not done any research on that.

If you do get tested, I would appreciate it very much if you would let me know the results, positive or negative. If anyone tests positive who is not a descendant of Marshall Mordecai, that will need to be communicated to everyone because it means it is certain that Arrie or Selma Mordecai carried this mutation and each one of their children had a 50% chance of inheriting it. I will not disclose any medical information you wish to keep private.

If you do test positive for this mutation, please contact me so I can give you my recommendations on the next steps to take in your medical care. Amyloidosis is a rare disease that many doctors will never see in their career, and fibrinogen amyloidosis is a rare type of this rare disease. Getting proper medical evaluation and treatment for this condition usually requires visiting a location that specializes in treating amyloidosis.

How do I find out more?

If you want to do some research on your own, here are a couple of links to start with:

Mayo Clinic article on amyloidosis:

eMedicine article on familial amyloidosis:

Be aware that most of the information available on amyloidosis on the internet deals with the primary version of the disease (also referred to as AL amyloidosis), so anything about chemotherapy or stem cell transplants does not apply. Much of the information I have found on familial and fibrinogen amyloidosis is geared toward medical professionals.

I know this is a lot to absorb, and since I have been learning about amyloidosis this entire year I will gladly discuss this further with anyone and answer any questions. My goal is for everyone who could have inherited this disease to be aware of it and inform their doctor. The genetic testing is secondary to that. But without genetic testing, this disease can take years to diagnose and is often misdiagnosed, leading to unnecessary loss of kidney function.

I can be contacted via email, phone, or regular mail. Here is my contact info:




David Jennings


If you find yourself in a similar situation and could use a letter like this to communicate to family members or your doctor, feel free to use any or all of it. Plagiarism is encouraged.

There isn't much I would change if I were to write this letter again today. I would, however, expand a little on genetic testing and include a link to, a web site that provides information about the Genetic Information Nondiscrimination Act (GINA). People naturally have questions about what can and cannot be done with an individual's genetic testing information, and I know there is some misinformation out there because I have heard it directly from one doctor and indirectly from another. Rather than give my interpretation when I hear those types of questions being asked, now I typically refer people to the site so they can read it and reach their own conclusions. (Note to our international readers: GINA applies only in the US. I am unfamiliar with the regulations in other countries.)

Next up: Transplant application

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