Treatment for amyloidosis and multiple myeloma

I was diagnosed 3 years ago, was in remission for 7 months, then back to where I am now which I'm not happy about but I realize it could be a lot worse. My symptoms started with fluid buildup in my feet and ankles, then later in my lungs. That's when I went to Mayo!

@beckyoutlaw1115 Just thought I would mention that in my search for a real dX since 1975, I have asked 60-70 M.D.s, 300-400 PAs, nurses and nurse practitioners, med techs, etc. I have got the first solid answers from a newspaper reporter and an Internet doctor. Now, almost two years later, all my medical team agrees with the first stage of the diagnosis. Multiple mutations of Light Chain Amy, including hATTRwt, Cystatin, primary, systemic, perhaps others. Of course, if some medico refuses to recognize that dX, they are soon not part of my team.

@beckyoutlaw1115 Hi, Becky, again. I am working on a list of various notable symptoms and signs of Amyloidosis of any form. I want to make a list of the things that ordinary folks might notice in their own lives that would encourage them and their doctors to go for "truth in diagnosis", indicating a likelihood of Amy. For instance, a high percent of known Amy patients use CPAP. Many have rheumatoid and/or psoriatic arthritis. About 10% of AL have enlarged tongues. I have black spots or sections on my toes and my eyelids. My vision is wavy and doubled in my eye from corneal dystrophy. My fingernails and toenails split and chip easily. On some of the nails, one side grows faster than the other side, creating a split or tear in the middle. I develop little purple-gray spots on my skin, all over my body. Anyway, I would appreciate if anyone who has this sort of thing would send me their list, I would really appreciate it. Positive proof of diagnosis is now available through current technology, but unless the patient asks to be tested, death will be listed as "from unknown causes". One of my good friends died a couple years ago from AL, but was never diagnosed. Or treated. Treatment is moving into real medicine now.

@beckyoutlaw1115 Hi, Becky. I have been wondering how you are doing?? I seem to be riding along, just dealing with the issues that come up. The only doc I have found in this area who can even spell the words is not in any hurry to get me into treatment, so I guess I will just have to take the consequences. My biggest problem, I think, is the anger I feel when I try to get medical care someplace and fail, or fail to get into a clinical trial because medicare does not approve, although all the labs agree I have it, but my brand seems to not show on any biopsy.

@beckyoutlaw1115 Maybe you have heard or read something that interests me. I have been reading about Mixed Connective Tissue Diseas for a while, and have a thought about it. The symptoms and signs folks talk about are very familiar to me. But I don't have MCTD, so I am told by my GP. I have hATTRwt, or Primary hereditary Amyloidosis of the TransThyretin wild type. It is called Wild Type because it can mutate into almost any form of Amyloidosis, apparently. The signs, symptoms and effects are the same. Only the mutation of the mutation pattern varies, and the exact tissue(s) that are affected vary. And there are well over a thousand known mutations of Amyloidosis, probably getting close to 2,000 now. Lupus, Crohn's, MM, Alzheimers, Evans Syndrome, Cystatin-C, Gelsolin and so many other disorders are part of this family and can spring from the hATTRwt protein. Now the punch line. Amyloidosis is also called, by many in America (including Mayo-Rochester) and by most of the world, a Mixed Connective Tissue Disease. Both are Protein disorders, systemic to the entire body or localized to a few tissues. There are many diagnostic procedures at play in the stronger clinics and labs such as Mayo-Rochester, ARUP in Salt Lake City, Sloan-Kettering, Brigham and Women's. SERUM FreeLightChain (Bindings UK), 24 hour urinary protein collection and assay, and a bunch more. Although it is an autoimmune disorder, very rare are the Rheumatologists who know how to dX it. Almost all the work is done by Hematologist, and an occasional Cardiologist.

@beckyoutlaw1115 Becky, if you are still around on line, have you heard about Patisiran, the most recent (I believe) drug from Alnylam? It sounds very good, and has FDA approval already. I hope to get on it soon. How are you doing now?

Hi oldkarl...when you mention light chains, are you referring to kappa/lambda?? Also, the M protein spike...is that separate?

@dazlin WOW, what a good question. This is one of the great mysteries of Amyloidosis diagnosis and treatment. That is, every person you talk to has a different set of opinions and values on this matter. First, the kappa proteins, seem to be the light (or Lite Chain) proteins. They are actually groups of proteins which weigh less than the Lambda proteins. Each can join with others of similar format to make long strings, or chains, to interrupt the business of various tissues in the body. The reference range is different for each in serum. Lite Chain reference range the clinic uses is typically up to 1.6 miligrams per deciliter of serum. For Heavy proteins, it usually is thought to be around 1.95mg/dL. Now, the M protein spike...it is separate, but I have talked with several folks who all disagree, so I will leave that alone. This is the great discomfort of Amyloidosis diagnosis. The Mayo search engine has a lot of stuff on this. Sorry I cannot do more. But do keep in mind that the assays for SERUM are quite different from those for PLASMA or WHOLE Blood.

Good morning oldkarl, thanks for your detailed reply!! I'm soooo happy to be able to talk to you...not many people know much of anything about this...so basically it's just me and the internet.
Yes, it's my understanding that kappa and lambda are light chains...I think white cells to help immunities?? But so are the IGG ,IGM. Very confusing, but very interesting. I guess all the different names, are different cells in one component..I don't know???. It's also my understanding the M spike is part of those chains, and spikes when one or the other starts cloning itself excessively.
I'm stable in MGUS, my kappa lambda ratio is a bit high...slight M spike under 1 point for a year now. What I can't figure...is individually the kappa and lambda are within the reference range...yet, the ratio of the two are high. I think this takes math...ewwww, not my subject. My IGM's have been pretty low...guess crowded out...?? Other labs look good, no anemia, no kidney probs, etc. Many other physical issues have popped...lung nodules(doesn't look cancerous), multiple fatty tumors, skin rashes, to name a few. I'm now high risk for fractures, osteoporosis....started in my early 50's. I was in complete denial about that, being a personal trainer, and worked out daily. They say it's age related, and I'm petite, small framed. Now mgus is said to contribute...myeloma cells like osteoclasts. I'm dealing with that naturally, as I cannot tolerate the side effects of those meds.
Sorry for this lonnnng message, but one other thing I want to say is my aunt had painful swelling, she would cry. Nothing EVER showed up in her blood. This lasted a few years. The last bout, her son carried her into E.R...she didn't last 2 weeks...was blood cancer. None of us in the family know what type. Unbelievable !! Sometimes I can't help wonder why I have all these strange issues...yet everything looks fine.

@dazlin Hi, dazlin... I must tell you that the best info I have found has come from the videos from Mayo with Martha Grogan and Angela Dispenzieri, and Morey Gertz. Then the stuff from Alnylam and the Amyloidosisfoundation.org. A lot of the other stuff rely on biopsy, which is very unfortunate as it is out of date by several years.. Most of the biopsies, especially the fat pad, really show less than 80% positive for patients who are found later to have had Amy before they died. There seem to be no biopsies with 100% certainty. The only tests with 100%certainty now, or near to it, seem to be the sFLC, PEP, sPEP, etc. as are listed in Mayo and the Foundation.