Amyloidosis

FAQs

How is amyloidosis diagnosed?
I have just been diagnosed with amyloidosis. What should I do?
Can Amyloidosis be cured?
What is the goal of today's treatment options?
Is amyloidosis a communicable disease?
I will have trouble paying for amyloidosis evaluation & treatment. What should I do?
What does Amyloidosis with heart involvement mean?
What does amyloidosis with kidney (renal) involvement mean?
What "dietary restrictions" are there for Amyloidosis?
Should Amyloidosis patients do "fad" or "boutique" diets?
What, if any, information is there regarding homeopathic remedies to assist in "healing/maintaining health" for amyloidosis?
A blood relative currently has, or died, from amyloidosis. Have my children or I inherited this disease?
As an Amyloidosis survivor, should I pursue getting proper follow-up care?

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 an essential test 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 mucosa. Stomach fat aspirates have been shown to be 80% accurate in Primary and Hereditary forms and 50% accurate in Secondary. In addition, the patient can be examined for a plasma cell dyscrasia by immunofixation electrophoresis of the blood and urine along with a bone marrow biopsy with immunohistochemical staining of plasma cells for κ and λ light chains. A Free Light Chain (FLC) blood test must be done. Having an initial FLC level will help in monitoring the disease in the future.

If a hereditary form of the disease is suspected, genetic testing is required to confirm the type. This is a simple blood test where the genes are analyzed to determine which mutation is present. This blood test can be done by mail to an amyloidosis center.

2. I have just been diagnosed with amyloidosis. What should I do?

Amyloidosis is so uncommon many physicians are not 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 experienced with this condition in the USA are located at:

Boston University Amyloid Treatment Program
Memorial Sloan-Kettering in New York City
The Mayo Clinic in Rochester Minnesota, Jacksonville FL and Scottsdale AZ.
Tufts Medical Center in Boston, MA

In the last five years or so, many doctors who trained with amyloid specialists have transferred around the country taking their expertise with them. The foundation keeps an up to date listing of doctors throughout the country who treat amyloidosis patients.

In Europe Facilities include:

The Royal Free Hospital near London
University di Pavia Hospital in Italy
Groningen University Hospital in the Netherlands

These institutions have established amyloidosis practices. 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?
Do other centers offer therapies not available locally?

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 affected 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 puts the patient at the most risk.

5. Is amyloidosis a communicable disease?

Amyloidosis is not known to be communicable through casual or intimate contact. However, some forms of the disease are hereditary.

6. I will have trouble paying for amyloidosis evaluation & treatment. What should I do?

Financial Aid for Amyloidosis Treatment

If you’re having trouble paying for treatment, the following strategies may help.

Enroll in a clinical trial - Drug makers or the National Cancer Institute often provide free drugs to participants of clinical trials. Check http://www.cancer.gov/ or http://www.clinicaltrials.gov/ or contact patient advocate groups or your doctor for information.
Contact the Patient Advocate Foundation - The, foundation, at http://www.patientadvocate.org/ helps insured patients get coverage for cancer drugs.
Find out if you are eligible for Medicare - Amyloidosis patients disabled by their disease may quantify. A lottery program offers help paying for some oral medications. Go to http://www.medicare.gov/ and click on Medicare Replacement Drug Demonstration.
Contact the manufacturer of your cancer medication - Many offer free medicine to the poor or uninsured. For a list of companies with assistance .programs, go to http://www.phrma.org/ or http://www.helpingpatients.org/. http://www.themedicineprogram.com/ helps patients find out if they qualify for various programs; $5 fee per medication.
Tell your' doctor - Oncologists can steer patients to available assistance programs and clinical trials. They may be wiling to contact drug companies on a patient's behalf.
Go to your hospital's patient-services department - Most have someone on staff to help patients work with insurance companies to get coverage. They frequently know of other financial-assistance programs.
Contact a patient advocacy group - Many know of financial assistance programs for patients.

7. What does Amyloidosis with heart involvement mean?

It means the patient has "restrictive cardiomyopathy" which is rare in the United States and most other industrialized nations. In this disease, the walls of the ventricles stiffen and lose their flexibility due to infiltration by abnormal tissue such as amyloid deposits. As a result, the heart cannot fill adequately with blood and eventually loses its ability to pump properly.

In the United States, restrictive cardiomyopathy is most commonly related to the following: amyloidosis, in which abnormal protein fibers (amyloid) accumulate in the heart's muscle; sarcoidosis, an inflammatory disease that causes the formation of small lumps in organs; and hemochromatosis, an iron overload of the body, usually due to a genetic disease.

Typical signs of the condition include symptoms of congestive heart failure: weakness, fatigue, and breathlessness. Swelling of the legs, caused by fluid retention, occurs in a significant number of patients. Other symptoms include nausea, bloating, and poor appetite, probably because of the retention of fluid around the liver, stomach, and intestines.

8. What does amyloidosis with kidney (renal) involvement mean?

It means that in some patients the abnormal amyloid proteins deposit themselves in the kidneys thus damaging them. In this situation, the patient now has kidney disease in addition to the amyloidosis. Mild kidney disease is often called renal insufficiency.

Kidney disease is present when the kidneys partly or completely (kidney failure) lose their ability to carry out normal functions. It causes problems such as anemia, high blood pressure, and bone disease in the body by impairing hormone production by the kidneys.

The main function of the kidneys is to remove waste products and excess water from the blood. The kidneys process about 200 quarts of blood every day and produce about 2 quarts of urine. The waste products are generated from normal metabolic processes including the breakdown of active tissues, ingested foods, and other substances. Your kidneys allow you to continue to consume a variety of foods, drugs, vitamins and supplements, additives, and excess fluids without worry that toxic by-products will build up to harmful levels. The kidney also plays a major role in regulating levels of various minerals such as calcium, sodium, and potassium in the blood. Kidney disease is dangerous because water, waste, and toxic substances build up that normally are removed from the body by the kidneys. The most common finding is excess protein in the urine.

9. What "dietary restrictions" are there for Amyloidosis?

There are no dietary restriction associated with the amyloidosis itself. However, since the amyloid attacks other body organs as a secondary effect, treating those might require diet & exercise therapy along with medication. For example, those with renal/kidney involvement may have to follow a diet that limits protein, sodium, potassium, phosphorus and fluids. When a patient has cardiac involvement, the situation is different and exercise may be more important. Generally, we recommend that you consult with your doctor. Blood tests will reveal what has to be managed. The doctor then should refer you to a dietician so that you can work out a plan.

10. Should Amyloidosis patients do "fad" or "boutique" diets?

We strongly recommend against these especially if your kidneys have been affected by the amyloid. Your body is no longer managing nutrients in the same way, so you could cause yourself more harm than good. What the patient needs is a well balanced diet. So please consult with your doctor to determine what you need to do, if anything at all. Also, refer to the "dietary restrictions" question above. Green Tea appears to interfere with one of the medications useful in treating amyloidosis as one example.

11. What, if any, information is there regarding homeopathic remedies to assist in "healing/maintaining health" for amyloidosis?

At this time, there is no known information in this regard. We do not recommend patients try this without consulting their physician first. The reason is that amyloidosis can affect any body organ, system or soft tissue. With systemic amyloidosis, the body no longer manages nutrients in the same way, so you could cause the body more harm than good. "Cats Claw" has been studied somewhat and is said to help the body rid itself of harmful amyloid deposits. This has yet to be proven. Others include "curcumin," "tumeric (same as curcumin)," "Chelation Therapy," and "fish oil supplements". Regarding Tai Chi, Yoga, Meditation, Guided Imagery, even Acupuncture, we think they may serve to calm and relax to help focus you on the healing/recovery process.

12. A blood relative currently has, or died, from amyloidosis. Have my children or I inherited this disease?

Generally, Amyloidosis is a very uncommon condition. And not all forms of amyloidosis are hereditary.Typically, families know when they have this because of similar symptoms and causes of death among blood relatives. However, new variants are still being discovered. So family history is a key indicator. If you know the country of origin of your family member who has/had amyloidosis, especially if they are Swedish, Japanese, Portuguese or Italian, there are research centers in those countries.

There are 2 tests for the hereditary version; DNA testing & blood tests. The DNA test would indicate the potential to develop the disease (i.e. carrying the gene). The blood test would look for the abnormal protein, indicating the disease is active. So, prior to the disease onset, a DNA test would show if you are at risk. After onset, both the DNA & blood tests are used to confirm and properly "type" the specific variation of familial amyloidosis.

As to whether you should get tested, this is a very personal decision. If you suspect amyloidosis due to your family history, then you should start by getting your relative’s medical history. Then your local doctor, consulting with an amyloidosis reference lab, can conduct the necessary blood & DNA tests on blood relatives to determine if you have the amyloid protein variant. "Transthyretin", is the most common type of hereditary amyloid and is produced in the liver. Treatment would potentially include a liver transplant.

Reference labs in N. America are at Boston Univ., Memorial Sloan-Kettering in New York City, the Mayo Clinic in Rochester Minnesota and Indiana University School of Medicine Amyloid Research Group Department of Pathology and Laboratory Medicine. Outside the US, labs are at the Royal Free Hospital near London, University di Pavia Hospital in Italy, and Groningen University Hospital in the Netherlands have established amyloidosis practices. Contact details are on this web site under MEDICAL HELP.

Keep in mind, Amyloidosis is sufficiently uncommon that primary care physicians quite often do not recognize when or how they must test for this disease. Seek the most experienced doctor you can.

13. As an Amyloidosis survivor, should I pursue getting proper follow-up care?

Amyloidosis survivors require customized follow-up care for years, but many of them may not be getting it. According a major cancer study, they are calling for a "survivorship plan" to guide every patient's future health care. The same is true for amyloidosis patients. When treatment ends, people with this condition, the requirement for special needs may be just beginning. Yet the physical, psychological and social consequences have largely been ignored by doctors, researchers, even patient-advocacy groups, often leaving survivors unaware of simmering health risks or struggling to manage them on their own, according to the Institute of Medicine. Successful amyloidosis care doesn't end when patients walk out the door after completion of their initial treatments. These are some of the recommendations by the Institute of Medicine, chartered by Congress to advise the government on medical matters: Every patient completing treatment should be given a customized "survivorship care plan" to guide health care. That plan should summarize the patient's care down to drug doses, cite guidelines for detecting recurrence or new malignancies, and explain long-term consequences of treatment. It should also discuss relapse monitoring, prevention of future organ damage and cite local psychosocial services and legal protections regarding employment and insurance. Specialists and primary-care providers should coordinate to ensure survivor needs are met. Health insurers should pay for this report. Scientists must improve or in some cases create guidelines on what screenings are needed for different forms of amyloidosis and their respective therapies.