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Looking for guidance...possible amyloidosis?
Hi everyone,
I’m honestly posting because I’m scared and running out of patience with how slow this has been.
For about five years I’ve had progressive neuropathy that started in my hands and feet and has slowly spread. Over the last year things have gotten much worse with significant chronic pain, GI issues (constipation/diarrhea, bloating, pain), presyncope that isn’t positional, exhaustion, and major sleep disruption. The pain especially has been hard to manage lately.
I have MGUS (IgG light chain), and my blood counts have slowly declined over the years (still in “normal” range, but trending down). A recent bone marrow biopsy showed hypocellularity (~30%). The initial read mentioned suspicious amyloid on congo red, but additional review came back negative, so mass spec wasn’t done.
What’s hard is that my symptoms keep escalating from yearly to now monthly, and I don’t feel like “wait and see” is realistic anymore. Neurology has already been involved in the past along with GI, and symptom-based meds like gabapentin haven’t helped much.
Just hoping to hear from people who’ve been through amyloidosis or other plasma cell disorders:
Did anyone have negative or inconclusive early biopsies?
What tissue ultimately led to answers for you?
How did you push for further evaluation when things didn’t add up?
Any guidance or shared experience would really mean a lot right now.
Thank you for reading. Matt
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nuclear testing?
Hi Matt, @mtnrunner8981 Finding answers to some of our medical issues can be a real test of patients. I’m empathetic with your struggle for trying to figure out what’s causing all of your symptoms!
While you’re waiting for other members who may have some suggestions on whether or not your symptoms are related to amyloidosis, I found several relevant discussions for you. Hopefully by perusing through these you’ll find some helpful feedback. I’ll post a couple for you and then the link to the rest of the search:
~Could this be Amyloidosis? With @melperez1223 @kayabbott @sigman
https://connect.mayoclinic.org/discussion/could-this-be-amyloidosis/
~Amyloidosis and Polyneuropathy? With @gala75 @cgarcia56 @
https://connect.mayoclinic.org/discussion/amylodosis/
Here is the entire list from the search for amyloidosis: https://connect.mayoclinic.org/search/
Information on amyloidosis from Mayo Clinic:
https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178
Have you had a fat-pad biopsy?
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1 ReactionI was dx with Amyloidosis of the ATTR-CM wild type in 2022. The standard of care test is a nuclear test called a PYP-99. They inject an iodine radioactive thing,lie on your back..no tube..yeah.. for about 45.min,with your arms over your head in a cradle. Not bad. The amyloidosis shows up green in the scan and shows in the heart,ribs, chest areas. Then,if positive, you can get a free genetic mouth swab test to rule out inherited type. Please read about the 4 main types in a good research on Mayo, Cleveland clinic, you tube info,etc. It's IMPERATIVE to get dx quickly and Quickly get on the new rxs.
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3 Reactions@annie14 thank you.
What you’ve described is incredibly valuable and could help many others facing a similar situation.
Amyloidosis is a rare group of diseases where abnormal, misfolded proteins (amyloid) clump together and build up in organs like the heart, kidneys, liver, and nerves, disrupting their normal function and causing serious damage or failure. It can be hereditary, acquired, or linked to chronic inflammation, with symptoms varying by affected organs, including fatigue, swelling, shortness of breath, and digestive issues.
In 2020 I started having different health problems - shortness of breath, swelling in legs. Primary doc did different tests and xrays but couldn't find anything. He referred me to a kidney doctor. While on phone with kidney doctor for appointment I mentioned that I had started swelling a lot. He told me to go to ER and called ahead for tests he wanted done. I was in hospital for a week because of edema - they took 30 lbs of excess water from my body. Docs said I had an abnormal protein in my blood causing the edema. When I was discharged they said they thought I might have multiple myeloma and amyloidosis. My kidney lab tests were getting worse and doc sent dialysis people to talk to me since lab results showed me close to having to go on dialysis. Doctors ran me thru more tests to see if they could get a definite diagnosis. I even had a belly fat biopsy that they thought would give definite answer. No answers from all the different test I had done. The doctors at my local cancer center couldn't agree on a diagnosis so they sent my records up to Stanford Health Care which has an amyloid center and does clinical trials. Stanford wanted tests done there so I went and got more tests done. Stanford said I had 2 rare disorders that have no cure - multiple myeloma and amyloidosis. They recommened a drug regimen called dara-CyBorD that they generally recommended for treatment of light chain amyloidosis.
Stanford is a 7 hr drive from where I live so Stanford started me on the drug regimen( 4 different powerful drugs) but I had it done at my local cancer center and Stanford checks on my status every so many months. I started the 6 month drug regime in Sept 2021. I have lab tests done before the treatment to see if my body is ok to take treatment. 1 Part of my lab test is sent to Mayo Clinic in AZ for analysis. It was 6 months of hell. All I did was get treatment, sleep and eat. Had all kinds of side affects -hearing problems, taste buds changed, diarrhea, etc. After the 6 months I went on chemo with only 1 drug - daratumumab. My doctors are amazed at how well I have done with the treatment. They say they never thought they would see me doing so well. I am the poster child for the treatment. It is now 4 years later and my kidneys are at stage 3 kidney failure so I don't have to worry about dialysis. I had a choice this year of stopping my monthly chemo since I was doing so well but I choose to stay on treatment so I don't go backward on my condition. My immune system is very low because of my disorders so I do a lot of things to avoid getting any bugs from different people. Doc does not want me to go near people who have been traveling since they come in contact with people from different areas with different bugs. So when my kids or grandkids travel they stay away from me for a week. I do not go into closed rooms with different people so don't go to any club meetings anymore or eat in a restaurant. I can go to things outdoor where there is fresh air. I always wear a mask when I go out. It amazes me how stupid some people are - I'm sitting in cancer center waiting area and there are some people there without masks who are coughing and not covering their mouth. Us cancer patients all need to get a bug to wear down our immune system!! I have mild neuropathy and incontinence because of health disorders. My local cancer center and Stanford both monitor my treatment .
Anyway this in my story of my journey with multiple myeloma and amyloidosis. Hope this is of some help to you. Oh, I am 85 years old.
I have ATTR (Heart), wild; Has anyone are or have been part of the CRISPR studies? What have outcomes indicated, Currently on Vyndamax for 2 years, but, marginal results.
Billy