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Could this be Amyloidosis?
I’m 57 years old and my health started to become problematic in my mid 40’s, but 9 years ago, things really picked up pace. I was diagnosed with Sjogren’s Syndrome after a blood test to determine why my arms and hands hurt so much. It was later confirmed via lip biopsy at OHSU. Then I started clotting heavily during my periods, so I have a hysterectomy. I then started having crushing chest pain, but know known heart issue. Then I developed horrible neuropathy and had punch biopsies from the top of my foot to my upper arm that were all positive for sever neuropathy and I was diagnosed with SFN-small fiber neuropathy, bi-lateral. Then I had a massive pulmonary embolism that they thought was perhaps connected to my hysterectomy. But, a year later, once off of my blood thinner, I had another. Then I developed pretty severe heart rhythm issues that kept me sending me to the ER. I finally had my heart shocked/restarted in the hospital because no drugs were helping. My rhythm would go close to 190 and drop to the 30’s. After heart meds, the shock and blood thinners, I still continued to have the same problem, so in January, I had a cardiac ablation. I also had carpal tunnel surgery in both wrists. During this time, I have been holding a ton of fluid in my feet, legs, and abdomen. 5 years ago, I started leaking thin, clear, salty fluid from my right nostril if I lean forward or lay face down, bend over to get into a cupboard, etc. now, it’s both sides, but primarily the right side. Recently, my cPAP hoses have been filling up with this watery substance and I have to get up and shake them out. I get headaches and vertigo, but I can work around it. Lastly, my shins are covered with bumpy, dry plaques that are tight and raised. I have a small number on my arms of random ones.
I feel like every single symptom leads me to Amyloidosis, but my blood test for ATTR was negative 9 years ago, so they brush it off. I FINALLY have a brain MRI on Monday of next week, so hope to find some answers. My former brain MRI’s showed quite a few white spots that the neurologist said were like tiny stroke spots that many older people have. I was in my mid 40’s at the time.
Am I off base to ask for doctors to prove to me that it’s not Amyloidosis?
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@melperez1223 Welcome to Mayo Clinic Connect!
We are not medical doctors here. We cannot diagnose nor prescribe medications. We support others sharing similar health experiences, and share information about treatments or medications that may or may not have worked for us or family members.
What do your doctors say at this point? Nine years is a long time between those specific tests, so it will be interesting to hear the results! Remember, our medical team will be looking at more than just a single test or procedure result. They cobble many things together! Will you let us know what they tell you, please?
Ginger
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2 ReactionsThank you, Ginger. I was providing my medical history as more of a justification for concern and totally understand that this forum is not meant to be diagnostic. At the end of the day, I would like to know if I should continue to push for tests to rule out Amyloidosis considering my negative ATTR blood test. I’m interested in understanding if you can have that test be negative, but still have the condition. My experience with the coordination of my care is awful and I have to make uneducated decisions about what happens next, what to ask for, who to call, to beg for tests, etc.
I appreciate the group.
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1 ReactionAn "easy" test for amyloidosis is a fat pad biopsy in which the doctor removes a small bit of fat from a shallow incision in your abdomen. I had one done two years ago due to multiple symptoms that pointed to amyloidosis. Turned out negative. Unfortunately when one collects autoimmune and other diseases (a sucky hobby) it is difficult to determine what is causing symptoms. Then the stress of not knowing hits us, and that makes symptoms worse. Hopefully you can get some answers soon.
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4 ReactionsThank you, you’re spot on.
@kayabbott I had the abdomen biopsy that came back negative. However, I had a spinal biopsy and tested positive for amyloidosis in my bone marrow.
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3 Reactions@sigman I hope your amyloidosis treatment is effective. Amyloidosis is a hard. My bone marrow (MGUS), fat pad, and kidney (MGRS neg) biopsies tested negative, but all biopsies just test a small area that may or may not be affected. My BMB tested at 16% deranged plasma cells, which is within SMM; because the plasma proteins tend to clump so hit-or-miss risk with the test, and I have no symptoms my oncologist thinks I am still MGUS.
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3 Reactions@sigman, is this a new diagnosis for you? What treatment is being recommended? How are you doing?
Ask your doctors about a cardiac MRI scan and a cardiac PET/CT scan for amyloidosis. That is how my cardiac amyloidosis, wild type, was diagnosed. Blood tests look for various causes but some do not have any abnormal blood tests.
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2 ReactionsHere are some websites to look at:
https://myamyloidosispathfinder.org
https://arci.org
I hope you can get some help, attention, and clarification.
Problem with amyloidosis is it is hard to diagnosis because so many other diseases have same symptoms and doctors look at the most common disease when looking at symptoms. Often diagnosis comes too late and people need a transplant. I read about several sports people who were diagnosed too late and were on list for heart transplant. It took 10 months for my diagnosis. My initial symptoms were shortness of breath and swelling in ankle/legs. Fluids were leaking thru my skin and making my clothing wet. I ended up in hospital with edema and lots of tests ordered by the kidney doctor. Ended up with hospital saying I might have multiple myeloma and amyloidosis. Spent next several month doing all kinds of different tests but none would give a definite diagnosis. Belly fat biopsy came out negative. Doctors at my cancer center couldn't agree on a diagnosis so they sent my case up to Stanford Health Care which has an Amyloid Center. Stanford did more tests and said I had 2 rare disorders that have no cure - multiple myeloma and light chain amyloidosis. They prescribed a treatment which my local cancer center did. Doctors at Stanford and local cancer center are please at how well I am doing. They never expected to see me doing so well. I still do monthy chemo so I don't go backwards in my condition. Still have shortness of breath so can only do things for a little while, then rest until my heart rate gets down. I wear an Apple watch to monitor my heart rate. Have neuropathy but not serious like some people have. My kidneys are at stage 3 now so I don't have to worry about going on dialysis. It's been 4 years of treatment. I am 85. Anyway the key thing is my diagnosis came about because my case was sent to Stanfords Amyloid Center. Is there any way your doctor can refer you to Stanford Amyloid Center for evaluation?
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