1. How is amyloidosis diagnosed? Amyloidosis is sufficiently uncommon that primary care physicians may not recognize when and how to test for this disease. The patient is often subjected to endless, time consuming and expensive testing. If amyloidosis is suspected, you should discuss this with your doctor.
Tissue that shows amyloid deposits on "Congo-red staining" is the only true way to confirm the suspicion of amyloidosis. To obtain tissue, the
least invasive means should be used first, such as stomach fat aspirate, oral or rectal muscosa. Stomach fat aspirates have been shown to be 80% accurate in Primary and Hereditary forms and 50% accurate in Secondary. Also, the patient can be examined for a plasma cell dyscrasia by immunofixation electophoresis of the blood and urine along with a bone marrow biopsy with immunohistochemical staining of plasma cells for
κ and λ light chains. Also, a Free Light Chain (FLC) blood test must be done. It is the free light chains that cause AL amyloidosis. Therefore, lowering the concentration of free light chains is the most important thing in treating AL.
For hereditary amyloidosis, other proteins (e.g. transthyretin) in the serum may be tested for along with DNA testing. 2. I have just been diagnosed with amyloidosis. What should I do? Amyloidosis is so uncommon many physicians may not recognize
and/or properly diagnose the disease; nor may they be up to date on the latest
treatments. We recommend you be referred to a facility that has experience with
amyloidosis for an evaluation. The doctors that are most expert in this
condition in the USA are:
- Boston Univ.
- Memorial Sloan-Kettering in New York City
- The Mayo Clinic in Rochester Minnesota.
In Europe:
- The Royal Free Hospital near London
- University di Pavia Hospital in Italy
- Groningen University Hospital in the Netherlands
These institutions have established amyloidosis practices. Contact details are on this web site under MEDICAL HELP. Once the evaluation is complete and the amyloidosis is confirmed and properly "typed", a reliable treatment plan can be put into place. Some questions you want to ask are:
What stage is my disease and which organs are involved?
How soon do I need to be treated?
What are my treatment choices?
What are the expected benefits of each kind of treatment?
What are the risks of each treatment?
What are the side effects of each treatment?
Are there new treatments or clinical trials that I should consider?
What are my chances of being cured or achieving remission?
How will we know if treatment is working?
How will each treatment affect my daily life?
What are the chances of the disease coming back again? 3. Can Amyloidosis be cured? For non-hereditary forms of the disease, there is no cure. However there are effective TREATMENT OPTIONS as documented on this web site. 4. What is the goal of today's treatment options?
Treatment is a 2 part process:
First, the goal behind any treatment is to stop or slow the production of the amyloid. If the production is not stopped, whichever body system, soft tissue or organ(s) are being effected by amyloid deposits will continue to deteriorate. This is why it is important to get a conclusive and accurate EVALUATION/diagnosis and treatment plan as soon as possible.
Second, the affected system, tissue or organ(s) must be dealt with. The goal is to restore as much function as possible. This is typically done with medication, diet, exercise and in some cases an organ transplant or surgery. It is the diseased or damaged organ(s) that put the patient at the most risk.
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