Amyloidosis

What is Amyloidosis?

Amyloidosis is a rare and incurable disease due to building up of abnormal proteins called amyloid fibrils in different tissues and organs of the body. This amyloid deposition causes organ enlargement as well as affects the normal functioning of the tissues and organs.

Amyloid proteins are produced in the bone marrow and cannot be broken down like normal proteins in the body. The amyloid proteins clump together forming amyloid deposits which cause damage to the organs and tissues.

Amyloidosis can affect many organs such as the kidneys, heart, spleen, intestines, nervous system, and liver at the same time and may also lead to organ failure.

What are the Types of Amyloidosis?

There are three main types of amyloidosis:

• Primary Amyloidosis (AL Amyloidosis): This is the most common type and is linked with a blood cancer called multiple myeloma. AL stands for "amyloid light chains", a type of protein responsible for amyloidosis. It most often affects the heart, lungs, skin, tongue, nerves, and intestines.
• Secondary or Acquired Amyloidosis (AA Amyloidosis): AA stands for amyloid type A protein which causes this type of amyloidosis and is due other chronic infections or inflammatory diseases such as rheumatoid arthritis, tuberculosis or ulcerative colitis.
• Familial Amyloidosis: This is a rare type of amyloidosis which runs in families and often affects the nervous system. This is due to inheritance of a gene mutation. Symptoms may manifest in adulthood or may not manifest at all. Some people may be carrier of the gene and pass it on to the next generation. The gene may produce amyloid protein that forms into an abnormal shape and gets deposited in the body's nerves and other organs. Once the deposit builds up, it may cause harm to the tissue and/or organ function.

Other forms include:

• Dialysis-related Amyloidosis (DRA): This occurs in older adults who have been on dialysis for more than 5 years.
• Senile or Old Age-related Amyloidosis: This is caused by deposits of protein transthyretin (TTR), which consists of many amino acids that bind and transport retinol and thyroxin throughout the body.
• Organ-specific Amyloidosis: This type affects single organs including the skin.

References:

1. Light-Chain (AL) Amyloidosis: Diagnosis and Treatment - (https://cjasn.asnjournals.org/content/1/6/1331)
2. Amyloidosis - (https://rarediseases.org/rare-diseases/amyloidosis/)
3. About Amyloidosis - (https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/amyloidosis)
4. Amyloidosis-Associated Kidney Disease - (https://jasn.asnjournals.org/content/17/12/3458)
5. Amyloidosis & Kidney Disease - (https://www.niddk.nih.gov/health-information/kidney-disease/amyloidosis)
6. AL Amyloidosis - (http://amyloidosis.org/facts/al/#diagnosis)

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