What should I do now?

(Last updated November 3, 2013)

This page contains my recommendations on what you should do if you have or may have fibrinogen amyloidosis. Please keep in mind that I am not a doctor, and these recommendations are just my opinion based on what I have learned about fibrinogen amyloidosis since it was first diagnosed in my family in July of 2010. I am still learning as I go along, and medical progress is being made slowly but surely, so these recommendations will change.

Regardless of what you read here, please seek medical advice from a doctor who is familiar with amyloidosis. If possible, find a doctor who is familiar with all types of amyloidosis, not just AL (primary) amyloidosis. (Some treatments for AL amyloidosis can do irreversible harm to someone with familial amyloidosis.) In the US the best place to find doctors familiar with amyloidosis would be either Boston University Amyloidosis Center or any of the Mayo Clinics. Doctors at these centers of experience will gladly work with your local doctors even if you cannot visit them in person. In the UK the center of experience is the National Amyloidosis Centre. (Others in Europe include the Amyloidosis Research and Treatment Centre at the University of Pavia in Italy, Heidelberg University Hospital in Germany, and the University of Athens School of Medicine in Athens, Greece.) There are other doctors with significant amyloidosis experience in the US and other parts of the world, so if working with a center of experience is not convenient for you, the doctors at these centers of experience can probably recommend a doctor closer to you.

Since there are so many situations people can be in with respect to this disease (based on the status of the patient's symptoms, genetic testing and kidney biopsy results), I have a section below for each case. There will certainly be some overlap. Look for your situation in bold below. I have detailed six different scenarios.


If you read something here you do not understand or do not agree with, please let me know either in the comments or via email (toe at juno dot com). Nearly every time I read through these recommendations I make a revision, so I expect them to change.

Note: Everything here assumes the Glu526Val mutation. If you have a different fibrinogen amyloidosis mutation, the recommendations here will generally apply, but there may be some specifics I am unaware of.

Scenario 1: You have tested positive for a fibrinogen amyloidosis mutation, and amyloidosis has been confirmed with a kidney biopsy.
  1. Ask your nephrologist to consult with a center of experience, such as Boston University or Mayo Clinic in the US, or the National Amyloidosis Centre in the UK. The doctors at these centers will know about the latest treatments available for fibrinogen amyloidosis.
  2. Read the journal articles listed on the resources page of this blog. At a minimum, become familiar with the four articles listed under "Treatment Options." You will need to be your own advocate.
  3. If you are considering a liver-only transplant instead of a liver-kidney transplant, be aware that you need to act quickly before your kidney function makes you ineligible for a liver-only transplant.
  4. Choose a friend or family member to become familiar with your medical situation and help you through this journey. Ideally this should be someone who can attend doctor appointments with you.
  5. Inform all members of your family who may have the same mutation.
  6. Inform all of your doctors of your diagnosis.
  7. Get an echocardiogram (if you haven't had one recently) so you will have a baseline measurement of your heart function.
  8. Get healthy and stay healthy. Watch your weight, follow your nephrologist's dietary instructions to keep your kidneys as healthy as possible, and drink plenty of fluids to keep yourself hydrated. The healthier you are the more likely you are to be eligible for clinical trials or organ transplants.
  9. If you have not already done so, join the online support group for patients with familial amyloidosis at www.familialonline.com.

Scenario 2: You have tested positive for a fibrinogen amyloidosis mutation, and you have begun showing symptoms of kidney problems such as proteinuria or elevated creatinine.
  1. Get under the care of a nephrologist. Your kidney problems may be due to fibrinogen amyloidosis, or they may be due to something else.
  2. Read the journal articles listed on the resources page of this blog. At a minimum, become familiar with the four articles listed under "Treatment Options." You will need to be your own advocate.
  3. Choose a friend or family member to become familiar with your medical situation and help you through this journey. Ideally this should be someone who can attend doctor appointments with you.
  4. Inform all members of your family who may have the same mutation.
  5. Inform all of your doctors of your diagnosis.
  6. Educate your nephrologist about fibrinogen amyloidosis. Print copies of some of the journal articles and give them to your nephrologist to read. Highlighting important passages would be a good thing to do.
  7. Ask your nephrologist to consult with a center of experience, such as Boston University or Mayo Clinic in the US, or the National Amyloidosis Centre in the UK. The doctors at these centers will know about the latest treatments available for fibrinogen amyloidosis.
  8. Get healthy and stay healthy. Watch your weight, follow your nephrologist's dietary instructions to keep your kidneys as healthy as possible, and drink plenty of fluids to keep yourself hydrated. The healthier you are the more likely you are to be eligible for clinical trials or organ transplants.
  9. Amyloidosis can only be confirmed by analyzing tissue samples, such as from a biopsy. If you and your nephrologist agree that you should get a kidney biopsy to confirm amyloidosis, consult with a center of experience to make sure the biopsy is properly analyzed. Since your mutation is known, Congo Red staining to confirm amyloidosis may be sufficient.
  10. If you have not already done so, join the online support group for patients with familial amyloidosis at www.familialonline.com.
  11. If a kidney biopsy confirms amyloidosis, you move to Scenario 1.


Scenario 3: You are showing symptoms of kidney problems such as proteinuria or elevated creatinine, and a kidney biopsy showed amyloidosis. You may have inherited fibrinogen amyloidosis, but you have not been genetically tested yet.
  1. Have genetic testing done to determine if you have the fibrinogen mutation. The web site www.ginahelp.org has a lot of information about genetic testing and it also clears up many of the misconceptions about it (especially applicable to US residents). You may want to speak with a genetic counselor to discuss any concerns you have about genetic testing.
  2. Consult with a center of experience, such as Boston University or Mayo Clinic in the US, or the National Amyloidosis Centre in the UK. You may want to get a full evaluation at a center of experience and have the genetic testing done as part of that evaluation.
  3. Read the journal articles listed on the resources page of this blog. You will need to be your own advocate if you do have fibrinogen amyloidosis.
  4. Choose a friend or family member to become familiar with your medical situation and help you through this journey. Ideally this should be someone who can attend doctor appointments with you.
  5. Get healthy and stay healthy. Watch your weight, follow your nephrologist's dietary instructions to keep your kidneys as healthy as possible, and drink plenty of fluids to keep yourself hydrated. The healthier you are the more likely you are to be eligible for clinical trials or organ transplants.
  6. If you have not already done so, join the online support group for patients with familial amyloidosis at www.familialonline.com.
  7. If you do test positive for a fibrinogen amyloidosis mutation, you move to Scenario 1.



Scenario 4: You are showing symptoms of kidney problems such as proteinuria or elevated creatinine, but you have not had a kidney biopsy. You may have inherited fibrinogen amyloidosis, but you have not been genetically tested yet.
  1. Get under the care of a nephrologist. Your kidney problems may be due to fibrinogen amyloidosis, or they may be due to something else.
  2. Have genetic testing done to determine if you have the fibrinogen mutation. The web site www.ginahelp.org has a lot of information about genetic testing and it also clears up many of the misconceptions about it (especially applicable to US residents). You may want to speak with a genetic counselor to discuss any concerns you have about genetic testing.
  3. Amyloidosis can only be confirmed by analyzing tissue samples, such as from a biopsy. If you and your nephrologist agree that you should get a kidney biopsy to confirm amyloidosis, consult with a center of experience to make sure the biopsy is properly analyzed. Be aware that the average pathology lab may not know how to properly analyze a biopsy to determine the presence of amyloidosis, and they may not be aware of the more advanced techniques used by the centers of experience. If you mutation is determined through genetic testing, Congo Red staining of the biopsy may be sufficient to confirm amyloidosis.
  4. If you do test positive for a fibrinogen amyloidosis mutation (before a kidney biopsy is done), you move to Scenario 2.
  5. If a kidney biopsy confirms amyloidosis (before genetic testing is done), you move to Scenario 3. 


Scenario 5: You have tested positive for a fibrinogen amyloidosis mutation but you are currently asymptomatic, meaning you do not have proteinuria or elevated creatinine.
  1. Inform all of your doctors that you have tested positive for fibrinogen amyloidosis.
  2. Have a physical exam every year and be sure you are checked for proteinuria and elevated creatinine annually.
  3. Have a 24-hour urine collection analyzed for protein. This does not need to be done annually, but it is a good idea to have this done to establish a baseline. A 24-hour urine collection is also useful to determine if proteinuria is due to a problem with the glomerulus, which it is in the case of fibrinogen amyloidosis. Assuming no other symptoms are present, this test should be done maybe every five years. (That is just my guess.)
  4. Inform all members of your family who may have the same mutation.
  5. Get healthy and stay healthy. Keep your weight down and definitely avoid diabetes. The healthier you are the more likely you are to be eligible for clinical trials or organ transplants if your kidneys become affected by amyloidosis.
  6. If you have not already done so, join the online support group for patients with familial amyloidosis at www.familialonline.com.
  7. If you do develop symptoms of kidney problems, you move to Scenario 2.

Scenario 6: You have not been tested for a fibrinogen amyloidosis mutation, but you may have it based on your family history. You are currently asymptomatic, meaning you do not have proteinuria or elevated creatinine.
  1. At your next appointment with your primary physician, inform him or her that someone in your family has a hereditary disease called fibrinogen amyloidosis. Tell your physician that the mode of inheritance is autosomal dominant, and penetrance is not 100%.
  2. Have a physical exam every year and be sure you are checked for proteinuria and elevated creatinine annually.
  3. Even if you remain asymptomatic, consider genetic testing to determine if you have the mutation. (Getting tested obviously makes more sense the more closely related you are to someone who has tested positive for the mutation.) The web site www.ginahelp.org has a lot of information about genetic testing and it also clears up many of the misconceptions about it (especially applicable to US residents). You may want to speak with a genetic counselor to discuss any concerns you have about genetic testing.
  4. If you do test positive for a fibrinogen amyloidosis mutation before you develop symptoms, you move to Scenario 5.
  5. If you develop symptoms before getting tested for the mutation, you move to Scenario 4.
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Again, as I said above, feedback and questions are welcome. Feel free to use the comments section below or send me an email (toe at juno dot com).

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