Amyloidosis and Polyneuropathy?

Hello @gala75, Welcome to Connect. I know it's difficult to be in so much pain and looking for answers. @oldkarl has discussed amyloidosis in other discussions and may be able to offer some insight or suggestions. You will notice that we added to your discussion title to better describe the discussion and hopefully bring in members with some experience to share with you.

While we wait for other members to join in, here are a few links I found that may provide more information on the topic.

Hereditary ATTR Amyloidosis Testing & Diagnosis
— https://www.hattrguide.com/diagnosing-hattr-amyloidosis/

Amyloidosis Foundation
— http://amyloidosis.org/facts/al/

Diagnosis of amyloid neuropathy
— https://pn.bmj.com/content/19/3/250

You mentioned having a lot of different tests without a diagnosis. Have you thought about seeking help at a major teaching hospital or health facility like Mayo Clinic?

I have an HMO Advantage coverage and would not be able to handle the cost outside of network. Is there anything in Louisiana available?

Gala75 !!Actually, I am happy to hear from John and from you. I have Amy.. ATTR, Gelsolin with some attachments. I have been fighting it all my life of 83 years. Incidentally, some of the most enjoyable time of my life has been in Louisiana in NO, Baldwin, Houma, Franklin.... We have a daughter and grandchild in Baton Rouge. Anyway, First, some info every patient ought to have. The International Myeloma Foundation (TheIMF@Myeloma.org, or just Myeloma.org) has a classic little booklet, free, called "Patient Handbook for the Newly Diagnosed", prepared by Brian G.M. Durie, MD, February 2022 Edition. I suggest you order about 10 or 20 of these. They are free, so give them to your doctors, family, neighbors, whatever. Especially to your Primary Doc, and your pathologist, and your Myeloma specialist if you have one. Read it so much you nearly memorize it. That will give you more than you will ever get from a local doc, just because that is Durie's Specialty. Then get more of the books, and give them to every doc and family member you run across. The Telephone is 1.800.452.CURE (FAX: 1.818.487.7454) And tell them I sent you. If you have insurance (Medicare, etc.) and can do it, get your insurance to pay for a complete whole genome analysis. If you can only do a little, contact Sequencing.com, or AmbryGen.com, or NebulaGenomics.com, or ask your local hospital to put in a grant to get you a partial analysis, called an "exome", or about 1% of total. It will give you a lot. oldkarl

My light chain kappa serum has increased from 19.5 to 25. Finally got to see a Hematologist who doesn't think it is serious yet. Have had 3 rounds of antibiotics for infections that have occurred in the last 3 months. All other blood work is good except for the kappa serum. Could the antibiotics have affected the blood work?

Hi there, I have the exact same symptoms as you and I am scheduled for a bilateral bone marrow biopsy on the 29th to confirm or rule out AL Amyloidosis. They diagnosed me with DADS-M polyneuropathy already and are starting IVIG infusions followed by Rituxan. My Hematologist told me that the amyloid deposits are patchy, so a negative biopsy doesn't necessarily mean that you don't have it. The best way to know is with a heart biopsy, since you're having heart symptoms, or a nerve biopsy in an area where you have the most neuropathy. If my bone marrow biopsy is negative, a nerve biopsy is the next step for me. I wish you all the best.

@gala75, @oldkarl, @cgarcia56 and others. I thought you might find the following upcoming webinar interesting and possibly helpful.

The Foundation for Peripheral Neuropathy and Alnylam Pharmaceuticals Present:
An Underrecognized Cause of Polyneuropathy: hATTR Amyloidosis

Hereditary ATTR (hATTR) amyloidosis is a rare, genetic condition that affects an estimated 50,000 people worldwide. hATTR amyloidosis is caused by a gene change or variant, that affects the function of a protein called transthyretin (TTR). In hATTR amyloidosis, the TTR gene change causes the protein to take on an abnormal shape and misfold. This change in shape causes the protein to build up in various parts of the body, including the nerves, heart, and digestive system.

As a hereditary disease, hATTR amyloidosis is passed down through family members. If one parent has hATTR amyloidosis, each child will have a 50% chance of inheriting the variant from that parent. However, inheriting the variant does not necessarily mean that they will develop hATTR amyloidosis.

Thu, Oct 17, 2024 12:00 PM - 1:15 PM CDT
Register: https://register.gotowebinar.com/register/5781001683785177175