Amyloidosis

Amyloidosis refers to a variety of conditions in which amyloid proteins are abnormally deposited in organs and/or tissues. A protein is described as being amyloid if, due to an alteration in its secondary structure, it takes on a particular aggregated insoluble form similar to the beta-pleated sheet. Symptoms vary widely depending upon the site of amyloid deposition. Amyloidosis may be inherited or acquired.

Amyloidosis affects approximately 1 in 90,666 or 3,000 people in USA. Amyloidosis is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that the disease affects less than 200,000 people in the US population. Ophanet, who are a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000: they list Amyloidosis as a “rare disease” as well.

  • 1,200 to 3,200 new cases each year for AL Amyloidosis in the US
  • 60 to 65% of cases of amyloidosis occurs in men in the US
  • Only 1% of amyloidosis patients are under 40 in the US
  • 1 in 6 amyloid patients have symptomatic liver involvement in the US
  • In 33-40% of amyloidosis patients, the kidney is affected; 35% of deaths from untreated secondary AA amyloidosis due to end-stage renal failure
  • The 5 year survival rate for secondary AA Amyloidosis is about 50%
  • The median survival rate for AL amyloidosis is 12-18 months

Amyloid can be diagnosed on microscopic examination of affected tissue. Extracellular amyloid deposits can be identified histologically by Congo red staining and viewing under polarized light where amyloid deposits produce a distinctive apple green birefringence. Other more specific tests are available to more precisely identify the amyloid protein. Biopsies are taken from affected organs (for example, the kidney), or often in the case of systemic amyloid, from the rectum, gingiva, or omentum (anterior abdominal adipose tissue). In addition, all amyloid deposits contain serum amyloid P component (SAP), a circulating protein of the pentraxin family. Radionuclide SAP scans have been developed which can anatomically localize amyloid deposits in patients. Bleeding under the skin, called amyloid purpura, is seen in a minority of patients with amyloidosis.

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.

Amyloidosis Foundation (Click here)

Amyloidosis Research Foundation (Click here)

There are three major types of amyloidosis that are all very different from each other:

1. PRIMARY AMYLOIDOSIS (AL) is a plasma cell disorder which originates in the bone marrow and is usually treated with chemotherapy. It is the most common type of amyloidosis in the United States, with estimates of up to 2000 cases diagnosed each year, and occasionally occurs with multiple myeloma. The deposits in this type of the disease are made up of immunoglobulin light chain proteins which may be deposited in any bodily tissues or organs. The disease results when enough amyloid protein builds up in one or more organs to cause the organ(s) to malfunction. The heart, kidneys, nervous system and gastrointestinal tract are most often affected.

Normally, bone marrow makes protective antibodies, which are proteins that protect against infection and disease. After they have served their function, these antibodies are broken down and recycled in the body. With amyloidosis, cells in the bone marrow produce antibodies that cannot be broken down. These antibodies then begin to build up in the bloodstream. Ultimately, they leave the bloodstream and can deposit in the tissues or organs as amyloid.

2. SECONDARY AMYLOIDOSIS (AA) is caused by a chronic infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, or granulomatous ileitis. The deposits in this type of the disease are made up of a protein called the AA protein. Medical or surgical treatment of the underlying chronic infection or inflammatory disease can slow or stop the progression of this type of amyloid.

3. FAMILIAL (or HEREDITARY) AMYLOIDOSIS is the only type of amyloidosis that is inherited. It is a rare form of the disease which is found in families of nearly every ethnic background. The deposits in this type are most commonly made up of the transthyretin protein which is manufactured in the liver. It is a mutation of such a protein that causes this form of amyloidosis.

4. OTHER TYPES OF AMYLOIDOSIS include localized amyloid, b2 micro globulin amyloid, and Alzheimer’s disease. Localized types of amyloidosis are associated with hormone proteins, aging, or specific areas of the body, and have not been found to have systemic implications. The type of amyloidosis which is due to the b2 micro globulin protein may affect people who have been on dialysis for a significant length of time. In Alzheimer’s disease, the amyloid protein in the brain is called the b-amyloid protein.

Amyloidosis Support Groups (Click here)

About the following video:

This is a short film that I (Karen, 24, Fairfield, CA) wrote, directed, shot, and edited for my Editing Concepts Final for grad school. This film is for my best friend who has Amyloidosis. “Forty Seven” is a day in the life of a young man who is completing a list of “47 Things to do Before I Die” while documenting it with post-it notes and Polaroids.

Doug from Delray Beach, FL

http://doughasamyloidosis.blogspot.com/

Journal of my fight with AL AMYLOIDOSIS, its trials, tribulations, and nuances. Hopefully I can help raise awareness about this insidious disease that frequently goes undiagnosed or misdiagnosed until its too late. This is a rare condition that the medical community and the general public need to be educated about.

Chip Miller Amyloidosis Foundation

http://chipmiller.org/

In March 2004, Chip Miller passed away from the little known disease amyloidosis. The foundation was formed shortly thereafter to help spread awareness of this disease and raise money for educational and research purposes. Our goal is for earlier diagnosis to affect better treatment outcomes. If Chip Miller and his doctors were aware of the symptoms of amyloidosis when they first presented, he may still be with us today.

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~ by marbleroad on June 16, 2009.

6 Responses to “Amyloidosis”

  1. My father is currently in treatment at Mayo-Jacksonville for amyloidosis. I appreciate finding your blog (via twitter). (tubbyswife)

    Dad has a carepage at http://www.carepages.com/carepages/RogersPage for anyone interested in following his situation.

    We did high dose chemo for two days, then bone marrow transplant…

  2. Beautiful site.
    I wish that mine looked this nice.
    Have you submitted it to Muriel at Amyloidosis Support Groups so that it can be added to the AMY Blog List?
    Thanks for the site.
    The more the merrier. The more we have out there, the better the chances of saving lives in the future.
    DEZ

  3. Thank you for such a great site. It will help me explain to family/friends what is actually wrong with me. I was diagnosed just over 12 months ago.
    Eileen Keogh, Melbourne, Australia

  4. My husband is fighting amylodosis at this moment. We are closing in on our one year anniversary. I feel so all alone with this disease because no one understands it. Thank you for this site.

  5. This is one of the best Amy sites I have found! Others dont seem to give much hope but yours does! Thanks! I needed that! My husband is so ill and now the medical bills from all the mis-diagnosis are starting to flood in. I am getting constant telephone calls from collectors on top of loving, supporting and caring for my precious husband..

  6. Hoping everyone is doing alright. Wanted to let you know we are holding a little contest – the Rare Children’s Storybook Project… A children’s book about the effect a rare diagnosis has had on your family could earn you $750 to help with health care related costs. Please scope it out over at http://www.myrarestory.com!

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