I have been sick for quite a while and I am in my 30's. I am getting to the point where it's even hard to go up stairs because I am in pain. I catch everything that comes around and I have lost over 40 pounds in 8 months with out trying.
A few months back the Doctors did a bone marrow biopsy after finding a monoclonal gammopathy. My Doctor gave me the results and said he thought I had multiple myeloma. I had11% plasma cells and many cytogenic markers (FISH Test). He even had my family in for a meeting to explain to them what was going on. He also set me up with a Myeloma specialist.
In the mean time, with research I came to the conclusion that I was smoldering because I meat none of the CRAB. That confused me even more because that should mean I have no symptoms but I have been very sick. Also it confused me that the doctor was already talking about treatment. So I figured I would get some answers from the specialist.
The day I went to the specialist, the Dr. told me that they thought I had Myeloma and maybe it was just going into stage 1 ant that would be why I have a lot of sickness. the doctor suggested starting treatment. She typed up a treatment plan, did a bone marrow biopsy and said she would let my local oncologist know the plan.
2 days later I went to see my local oncologist and he didn't know anything about the treatment plan. I even handed him the typed plan from her office. He said he didn't know if I had Multiple Myeloma or something else or if I was dealing with smoldering and something else. He said that he and the specialist had decided to look at Amyloidosis as a popssibility.
So I am really confused. Why would two different doctors tell me about 4 times that I have multiple myeloma if they aren't sure? I feel like I am on an emotional roller coaster. Is there another disease that can cause increased plasma cells in the bone marrow? Isn't the diagnosis of multiople myeloma pretty cut and dry? If I don't have Multiple Myeloma, then why did the FISH test show so many abnormalities pointing to Multiple Myeloma?
I feel like giving up on Doctors and waiting until something obvious happens to get help.
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Re: misdiagnosis?
Hi confused,
I'm sorry to hear about the trouble you're having figuring out whether or not you have myeloma. I know the situation is frustrating, but ask yourself: what would you rather have -- uncertainty, with the possibility that you don't have myeloma, or certainty and knowing that you have myeloma?
Personally, I think uncertainty is the better of the two options at this point!
With the elevated levels of plasma cells that you have, without any of the CRAB symptoms, it does sound like you might be smoldering. I have a few questions though. What were your red blood cell, white blood cell, and platelet counts? Were they all in normal ranges?
Also, did the myeloma specialist order a serum protein measurement and, if so, what was it?
From what I know about amyloidosis, I don't think it would account for the elevated levels of plasma cells in your bone marrow. But other people may be more expert on that front than me.
One possibility you may want to consider is seeing if you could be seen by the folks at the NIH who are conducting a natural history (observational) study of MGUS and smoldering myeloma. If you live reasonably close to Washington DC, you may be able to schedule an appointment and the tests they do might help you figure out exactly what you have.
Here is more information about that trial:
http://bethesdatrials.cancer.gov/clinical-research/search_detail.aspx?ProtocolID=NCI-10-C-0096
Finally, is the myeloma specialist you've been seeing at a major cancer center that sees a lot of myeloma patients? If not, I would see if you could arrange an appointment with a myeloma specialist at such a center. There is a list of treatment centers at this site here:
https://myelomabeacon.org/treatment-centers/
Please feel free to share more information with us. We'll do what we can to help.
I'm sorry to hear about the trouble you're having figuring out whether or not you have myeloma. I know the situation is frustrating, but ask yourself: what would you rather have -- uncertainty, with the possibility that you don't have myeloma, or certainty and knowing that you have myeloma?
Personally, I think uncertainty is the better of the two options at this point!
With the elevated levels of plasma cells that you have, without any of the CRAB symptoms, it does sound like you might be smoldering. I have a few questions though. What were your red blood cell, white blood cell, and platelet counts? Were they all in normal ranges?
Also, did the myeloma specialist order a serum protein measurement and, if so, what was it?
From what I know about amyloidosis, I don't think it would account for the elevated levels of plasma cells in your bone marrow. But other people may be more expert on that front than me.
One possibility you may want to consider is seeing if you could be seen by the folks at the NIH who are conducting a natural history (observational) study of MGUS and smoldering myeloma. If you live reasonably close to Washington DC, you may be able to schedule an appointment and the tests they do might help you figure out exactly what you have.
Here is more information about that trial:
http://bethesdatrials.cancer.gov/clinical-research/search_detail.aspx?ProtocolID=NCI-10-C-0096
Finally, is the myeloma specialist you've been seeing at a major cancer center that sees a lot of myeloma patients? If not, I would see if you could arrange an appointment with a myeloma specialist at such a center. There is a list of treatment centers at this site here:
https://myelomabeacon.org/treatment-centers/
Please feel free to share more information with us. We'll do what we can to help.
Re: misdiagnosis?
My second opinion is from a myeloma specialist in a place where the doctors only see patients with blood cancers. Are you asking about a monoclonal spike? That was 1.4. Something about the gamma region being high and the rest being low. I would definitely rather not have the myeloma diagnosis but feel like a yoyo as they have been going back and forth with a diagnosis. And then actually writing me up a treatment plan and telling me that it will help me feel better. This last couple of yrs I have went from being very active to no quality of life. I feel like they shouldn't have pulled my family in and told them I had multiple myeloma with my son crying, if they had any doubts. I'm really frustrated. And maybe I do have smoldering. But then, I shouldn't be so I'll?
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confused
Re: misdiagnosis?
Hi sorry to hear about the ups and downs of not being able to get a diagnosis. I can relate to that I am in my 30's also, and as your dr might have said, multiple myeloma or even cancer is not that common for our age group that makes it that much more difficult to get a clear diagnosis.
As per amyloidosis, it is in the same family of illnesses as Myeloma (plasma cell) so treatments are similar, and even some of the same drugs.
As per amyloidosis, it is in the same family of illnesses as Myeloma (plasma cell) so treatments are similar, and even some of the same drugs.
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lys2012 - Name: Alyssa
- When were you/they diagnosed?: 2010, Toronto, Canada
- Age at diagnosis: 32
Re: misdiagnosis?
If you're seeing a specialist at a place that specializes in blood cancers, then you're probably in good hands.
Your response, and the response from Lys2012, made me read up a bit more on amyloidosis and how it's diagnosed. As it turns out, it's not an easy disease to diagnose.
I found two sources online that you may want to spend some time working your way through to understand how you and your doctors may best be able to decide whether you have smoldering myeloma or amyloidosis.
This article struck me as a bit easier to read:
http://www.jhoonline.org/content/4/1/47
It says the following: "AL amyloidosis should be suspected in any patient with a monoclonal gammopathy and unexplained shortness of breath, fatigue, edema, weight loss, orthostasis or paresthesias ... However, it often requires an astute clinician because symptoms are diverse and easily mimicked by more common disorders. Once considered, the evaluation for AL amyloidosis includes testing to identify an underlying clonal plasma cell disorder (bone marrow aspirate/biopsy, serum and urine electrophoreses and immunofixation and serum free light chain testing). In addition, it is essential to determine organs of involvement and an initial work up should include echocardiogram, EKG, 24 hour urine total protein assessment, orthostatic blood pressures; specific GI and NS testing should be performed if indicated."
Another article also may be useful, but I found the language in it to be quite technical:
http://onlinelibrary.wiley.com/doi/10.1002/ajh.22248/pdf
It starts out by saying that "Amyloidosis is particularly difficult to diagnose because no single imaging, blood, or urine test is diagnostic for this disorder. The presenting symptoms can be very broad and are often mimicked by more common disorders. The diagnosis of AL should be suspected in any patient with nondiabetic nephrotic syndrome; nonischemic cardiomyopathy with “hypertrophy” on echocardiography; hepatomegaly or increased alkaline phosphatase value with no imaging abnormalities of the liver; chronic inflammatory demyelinating polyneuropathy with a monoclonal protein; or the presence of a monoclonal gammopathy in a patient with unexplained fatigue, edema, weight loss, or paresthesias."
It continues by explaining that "Appropriate screening of a patient with a clinical syndrome compatible with AL would include immunofixation of the serum, immunofixation of the urine, and an Ig-free light chain (FLC) assay. ... The high frequency of λ light chain proteinemia is a hallmark of AL. If immunofixation of serum and urine is negative and the Ig-FLC (κ:λ) ratio is normal (0.26–1.65), AL is unlikely and further evaluation should not be undertaken, unless the clinical index of suspicion is very high."
If you want to search for more information, be sure to search for "Immunoglobulin light chain amyloidosis", and not just "amyloidosis". The general stuff you'll find on amyloidosis won't really be as helpful as what you'll find about the more specific kind of amyloidosis that is relevant in these kinds of situations.
Good luck!
Your response, and the response from Lys2012, made me read up a bit more on amyloidosis and how it's diagnosed. As it turns out, it's not an easy disease to diagnose.
I found two sources online that you may want to spend some time working your way through to understand how you and your doctors may best be able to decide whether you have smoldering myeloma or amyloidosis.
This article struck me as a bit easier to read:
http://www.jhoonline.org/content/4/1/47
It says the following: "AL amyloidosis should be suspected in any patient with a monoclonal gammopathy and unexplained shortness of breath, fatigue, edema, weight loss, orthostasis or paresthesias ... However, it often requires an astute clinician because symptoms are diverse and easily mimicked by more common disorders. Once considered, the evaluation for AL amyloidosis includes testing to identify an underlying clonal plasma cell disorder (bone marrow aspirate/biopsy, serum and urine electrophoreses and immunofixation and serum free light chain testing). In addition, it is essential to determine organs of involvement and an initial work up should include echocardiogram, EKG, 24 hour urine total protein assessment, orthostatic blood pressures; specific GI and NS testing should be performed if indicated."
Another article also may be useful, but I found the language in it to be quite technical:
http://onlinelibrary.wiley.com/doi/10.1002/ajh.22248/pdf
It starts out by saying that "Amyloidosis is particularly difficult to diagnose because no single imaging, blood, or urine test is diagnostic for this disorder. The presenting symptoms can be very broad and are often mimicked by more common disorders. The diagnosis of AL should be suspected in any patient with nondiabetic nephrotic syndrome; nonischemic cardiomyopathy with “hypertrophy” on echocardiography; hepatomegaly or increased alkaline phosphatase value with no imaging abnormalities of the liver; chronic inflammatory demyelinating polyneuropathy with a monoclonal protein; or the presence of a monoclonal gammopathy in a patient with unexplained fatigue, edema, weight loss, or paresthesias."
It continues by explaining that "Appropriate screening of a patient with a clinical syndrome compatible with AL would include immunofixation of the serum, immunofixation of the urine, and an Ig-free light chain (FLC) assay. ... The high frequency of λ light chain proteinemia is a hallmark of AL. If immunofixation of serum and urine is negative and the Ig-FLC (κ:λ) ratio is normal (0.26–1.65), AL is unlikely and further evaluation should not be undertaken, unless the clinical index of suspicion is very high."
If you want to search for more information, be sure to search for "Immunoglobulin light chain amyloidosis", and not just "amyloidosis". The general stuff you'll find on amyloidosis won't really be as helpful as what you'll find about the more specific kind of amyloidosis that is relevant in these kinds of situations.
Good luck!
Re: misdiagnosis?
Lys, You are so right about the Dr.s thinking I do not fall into the right category. The oncologist that performed my first BMB was completely floored when he got the results. He did not think I would have these problems.
Terry, All of your responses are very informative. Thank you for all the time and effort you put into trying to help me. Hopefully I will have some answers tomorrow. They did another bone marrow biopsy to see if anything has changed in the past month. They are doing a fat pad test for the amyloidosis and they checked my bone marrow for that. Also, Thursday, I am having a PET scan. I don't know how this is different from the MRI. Also The Dr. told me that I shouldn't have contrast with multiple myeloma and then ordered the PET scan and it involves contrasts. She must see that my need for the test out weighs risk. I feel there are so many terms that I don't understand. She rattled off all of these numbers about a FISH test that told her that I probably do have multiple myeloma and that it is the more aggressive form. I just sat there, staring as if she was talking in a different language. Really she was! All I can do while waiting for results,apts, and tests is further educate myself about multiple myeloma and Amyloidosis, even though I may not have these. I'm sure I will have a lot of answers by Friday but who knows!?
Thank you again for your responses.
Terry, All of your responses are very informative. Thank you for all the time and effort you put into trying to help me. Hopefully I will have some answers tomorrow. They did another bone marrow biopsy to see if anything has changed in the past month. They are doing a fat pad test for the amyloidosis and they checked my bone marrow for that. Also, Thursday, I am having a PET scan. I don't know how this is different from the MRI. Also The Dr. told me that I shouldn't have contrast with multiple myeloma and then ordered the PET scan and it involves contrasts. She must see that my need for the test out weighs risk. I feel there are so many terms that I don't understand. She rattled off all of these numbers about a FISH test that told her that I probably do have multiple myeloma and that it is the more aggressive form. I just sat there, staring as if she was talking in a different language. Really she was! All I can do while waiting for results,apts, and tests is further educate myself about multiple myeloma and Amyloidosis, even though I may not have these. I'm sure I will have a lot of answers by Friday but who knows!?
Thank you again for your responses.
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confused
Re: misdiagnosis?
I have light chain lambda amyloidosis. It can be difficult to definitively diagnose. I have had MGUS for over 6 years at least and bone biopsy showed 10-12% clonal plasma cells. Your fat pad biopsy might show the amyloid. They will do the congo-red staining and look for green bifurescence under polarized light. This is the gold standard for identifying amyloid. If detected in the fat pad then they will need to verify the type of amyloidosis to know the origin of the misfolded proteins. This requires immuno staining that is not always done or possible with a fat pad biopsy. For me, a kidney biopsy was required. My kidneys were dumping protein into my urine which demonstrated kidney involvement. They may need to biopsy another organ/tissue for you to verify the type. It is very important to determine the type of amyloidosis as the treatment is different for each type. Having just gone through what you are experiencing, there are no good outs for these diseases, but you need to know what you have so it can be effectively treated.
Re: misdiagnosis?
Covela, I have been having racing heart and burning in my chest. It could be a symptom or it could be anxiety from everything. It happens when I do to much or feelworn out. AAlso, my tongue is definitely fatter. So, you are saying that the fat pad test is gold standard? Better than the BMB
Also, I just got my labs back. I do have anaemia and my kappa/lambda ratio is 12. It said it was high. Can this happen with Amyloidosis or us that from the multiple myeloma? Does this mean it's active myeloma?
Thank you
Also, I just got my labs back. I do have anaemia and my kappa/lambda ratio is 12. It said it was high. Can this happen with Amyloidosis or us that from the multiple myeloma? Does this mean it's active myeloma?
Thank you
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confused
Re: misdiagnosis?
The gold standard is the congo red staining of the biopsy. The specific biopsy for verification varies between patients. It is an individualistic disease so patients have amyloid protein deposition in different tissues/organs. I have no heart involvement so a heart biopsy would likely be negative for me even though I have amyloidosis. Common sites for amyloid deposition are kidney, heart, tongue, GI tract, peripheral nerves, and fat. For the heart, symptoms are similar to congestive heart disease where you are tired and quickly become short of breath, sometimes from just walking up a flight of stairs. I had the chest pain and stomach aches associated with anxiety too, but these were not related. It just feels like everything is related.
Your abnormal light chain ratio may be related to amyloidosis but is not specific for the disease as multiple myeloma patients also commonly have this. Amyloidosis can only be confirmed through a biopsy and the specific stainings of the affected tissue. A bone marrow biopsy will not always show the amyloid unless this is one of the end organs where your body is depositing the misfolded proteins. My BMB did not show any amyloid. Typically the BMB is used to show your level of clonal plasma cells and to genetically characterize them.
multiple myeloma and amyloidosis have similar origins so the clonal plasma cell origin, free light chain ratio, and even symptoms (kidney failure) can be very similar. The diseases are quite different though. Your doctors should be able to verify which you have but it may take several weeks. Biopsy results usually take a couple weeks. Best.
Your abnormal light chain ratio may be related to amyloidosis but is not specific for the disease as multiple myeloma patients also commonly have this. Amyloidosis can only be confirmed through a biopsy and the specific stainings of the affected tissue. A bone marrow biopsy will not always show the amyloid unless this is one of the end organs where your body is depositing the misfolded proteins. My BMB did not show any amyloid. Typically the BMB is used to show your level of clonal plasma cells and to genetically characterize them.
multiple myeloma and amyloidosis have similar origins so the clonal plasma cell origin, free light chain ratio, and even symptoms (kidney failure) can be very similar. The diseases are quite different though. Your doctors should be able to verify which you have but it may take several weeks. Biopsy results usually take a couple weeks. Best.
9 posts
• Page 1 of 1