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Amyloidosis - An Overview Of This Rare Disorder (And The Amyloid Hypothesis)

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Amyloidosis - An Overview Of This Rare Disorder

When it comes to knowledge of the human body, most of us, doctors notwithstanding, are operating on a very elementary level.

For example, take the protein amyloid. It is rare and abnormal, but our own bone marrow can produce it and deposit it into any tissue or organ.

When the protein builds up within the organs, this is know as amyloidosis. This rare disease can affect many different organs in different people. There is no cure, but treatment can limit the product of amyloid protein. (1)

The most common type of amyloidosis is AL amyloidosis. This stands for amyloid light chains and describes the antibodies made by the liver that can’t be broken down. Secondary, or AA, amyloidosis stands for amyloid type A protein, which occurs with inflammatory disease (such as the rheumatoid diseases) or chronic infections. (2)

There is no known cause for AL amyloidosis, but risk factors for amyloidosis include:

• Sex (70% of sufferers are male)
• Age (AL Amyloidosis mostly hits people between 60 and 70 years of age)
• Kidney dialysis (as dialysis can’t always remove proteins in the blood. This can lead to protein buildup, although with modern dialysis, this is less and less common)
• Patients with multiple myeloma cancer
• Family history (hereditary amyloidosis is known as ATTR and is caused by mutations in the TTR gene. New therapies have been shown to slow the growth of this specific branch of amyloidosis) (3)

Although many different proteins can lead to amyloid deposits, only a few have led to major health problems. For example, cardiac amyloidosis can make the walls of the heart stiff. Less blood flow to the heart can also mean that it may eventually have problems pumping. (2)

Most amyloid patients do have a build-up of amyloid protein in their kidneys.

Amyloidosis is usually a multi-factor disease (3). Patients may be referred to many specialists to get treatment. In the beginning, blood and urine samples can detect abnormal proteins. (2) A biopsy will be able to detect the specific abnormal protein.

Imaging can also help to show the amount of damage to the heart, the spleen and the liver.

As there are many types of amyloidosis, it is hard to specify a treatment. It does entirely depend on the type of disease and the organ(s) affected. Treatment may include one of the following:

• Chemotherapy with stem cell transplant to damage the abnormal bone marrow cells and stop them from making the abnormal proteins (mostly for those with AL amyloidosis)
• Steroids (mostly for secondary, AA amyloidosis, but can certainly be done in conjunction with chemotherapy)
• Liver or kidney transplant
• Dietary restrictions
• Compression stockings (to help with swelling)

Alzheimer’s patients have an unusual build-up of amyloid in their brains. However, drugs that have helped remove the protein have not helped to slow the onset of dementia. Large clinical trials are currently underway that will test amyloid drugs on Alzheimer’s patients, either to close the amyloid hypothesis for good or to find mounting evidence that the two are related. At the present time, there are no drugs for amyloid that also target Alzheimer’s. (4)

There is a lot to discover within this multi-factor disease. Many scientists and doctors are churning out new articles and new clinical trials regularly, in the hope that there will be more clear answers and clear treatment in the future.

 

 

1.    Amyloidosis. The Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178Retrieved 14 February 2019.

2.    Amyloidosis. WebMD. https://www.webmd.com/cancer/lymphoma/amyloidosis-symptoms-causes-treatments#1Retrieved 14 February 2019. 

3.    Amyloidosis: Rare Disease Database. National Organization For Rare Disorders. https://rarediseases.org/rare-diseases/amyloidosis/ Retrieved 14 February 2019.

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4.    Zhang, Sarah. Is The Leading Theory About Alzheimer’s Wrong? The Economist. https://www.theatlantic.com/health/archive/2017/02/alzheimers-amyloid-hypothesis/517185/Retrieved 14 February 2019.

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EmpowHER Guest
Anonymous

Why no mention of the other types of amyloidosis? (hATTR & countless subtypes not so easily treated though new RNAi drugs could help)

February 26, 2019 - 7:56am
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