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IMS 2025 | Improving the diagnosis of amyloidosis: advice that can be applied in practice
Gareth Morgan, MD, PhD, FRCP, FRCPath, NYU Langone Health, New York City, NY, gives advice to support earlier recognition and diagnosis of amyloidosis. Prof. Morgan emphasizes the importance of strong clinical suspicion and targeted organ biopsy to confirm the diagnosis, highlighting the need to distinguish between TTR and AL amyloid. This interview took place at the 22nd International Myeloma Society (IMS) Annual Meeting in Toronto, Canada.
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Transcript
I think it’s one of those areas that are changing. So amyloid diagnosis is complex. It always used to be said that AL amyloid was the commonest form of amyloid, but things have changed in the last five years. It’s now realized that TTR, cardiac amyloid, is very much a common diagnosis as you get older, something like 30% of the population with heart failure can have TTR amyloid. So it’s important that we talk not just about AL, but we recognize the importance of TTR amyloid...
I think it’s one of those areas that are changing. So amyloid diagnosis is complex. It always used to be said that AL amyloid was the commonest form of amyloid, but things have changed in the last five years. It’s now realized that TTR, cardiac amyloid, is very much a common diagnosis as you get older, something like 30% of the population with heart failure can have TTR amyloid. So it’s important that we talk not just about AL, but we recognize the importance of TTR amyloid. For AL amyloid, the important thing is to have a strong clinical suspicion based on people’s clinical symptoms and signs. So, if you have periorbital edema, macroglossia, peripheral neuropathy, albuminuria, you should have a strong suspicion of amyloid and then go after it. And so, what people classically say is that if you do a bone marrow, trifining biopsy plus a fat pad biopsy, you can detect the presence of amyloid in about 98% of people. I’m not sure that it’s quite as accurate as that and sometimes you can have a strong suspicion but not have anything on those screening tests. In those cases, it’s really important to go for the organ that’s involved. So if you have heart failure and you have a strong suspicion it’s cardiac amyloid, then you need to biopsy the heart because you need to know the difference between TTR or AL because the treatment’s very different. So the same goes if you have peripheral neuropathy. One of the classic clinical problems or conundrums is what do you do with somebody with albuminuria who you think may have amyloid but actually has hypertension, diabetes is overweight. And so the conundrum there is if you do a renal biopsy, you can get bleeding, you can lose the kidney. And so you can see the conundrum in that you can do the biopsy of the bone marrow and the fat pad biopsy and get an answer. But it’s always going to be around level of suspicion, bone marrow, fat pad, biopsy, the involved organ.
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