Which are the causes of Amyloidosis?

Amyloidosis is a rare group of diseases characterized by the abnormal accumulation of amyloid proteins in various organs and tissues throughout the body. These amyloid proteins are misfolded and can disrupt the normal functioning of organs, leading to a wide range of symptoms and complications. While the exact cause of amyloidosis is not always known, there are several factors that can contribute to its development.

Genetic Mutations

Genetic mutations play a significant role in certain types of amyloidosis. Inherited genetic mutations can cause the body to produce abnormal proteins that are prone to misfolding and forming amyloid deposits. For example, familial amyloidosis is caused by specific gene mutations that are passed down through generations. These mutations affect the production of proteins such as transthyretin (TTR), apolipoprotein A1 (APOA1), and gelsolin (GSN), leading to the formation of amyloid deposits in various tissues.

Age-Related Amyloidosis

Age-related amyloidosis is a common form of the disease that occurs as a result of normal aging. As we age, the body's ability to break down and clear amyloid proteins decreases, leading to their accumulation in various organs. This type of amyloidosis often affects the heart, kidneys, liver, and other vital organs, causing progressive damage over time.

Chronic Inflammatory Conditions

Chronic inflammatory conditions, such as rheumatoid arthritis, inflammatory bowel disease, and tuberculosis, can contribute to the development of amyloidosis. The persistent inflammation in these conditions can trigger the production of certain proteins that can misfold and form amyloid deposits. These deposits can then accumulate in different organs, leading to organ dysfunction and damage.

Multiple Myeloma

Multiple myeloma, a type of cancer that affects plasma cells in the bone marrow, is associated with a higher risk of developing amyloidosis. In multiple myeloma, abnormal plasma cells produce excessive amounts of immunoglobulin light chains, which can misfold and form amyloid deposits. These deposits can affect various organs, including the heart, kidneys, and nerves.

Chronic Infections

Chronic infections caused by certain bacteria or viruses can contribute to the development of amyloidosis. For example, long-standing infections such as tuberculosis, osteomyelitis, and leprosy have been linked to the formation of amyloid deposits. The chronic inflammation and immune response triggered by these infections can promote the misfolding of proteins and subsequent amyloid deposition.

Hemodialysis-Related Amyloidosis

Hemodialysis-related amyloidosis is a specific type of amyloidosis that affects individuals undergoing long-term hemodialysis treatment for kidney failure. Over time, certain proteins present in the blood, such as beta-2 microglobulin, can accumulate in the joints and tendons, leading to the development of amyloid deposits. This can cause pain, stiffness, and limited mobility in affected individuals.

Other Factors

While less common, there are other factors that can contribute to the development of amyloidosis. These include:

• Autoimmune disorders: Certain autoimmune disorders, such as systemic lupus erythematosus and Sjögren's syndrome, can increase the risk of amyloidosis.


• Organ transplantation: In rare cases, individuals who have received organ transplants may develop amyloidosis due to the transfer of amyloid-producing cells or proteins from the donor.


• Unknown causes: In some cases, the exact cause of amyloidosis remains unknown, and it is classified as idiopathic amyloidosis.

It is important to note that while certain factors can increase the risk of developing amyloidosis, not everyone with these risk factors will develop the disease. Amyloidosis is a complex condition influenced by a combination of genetic, environmental, and other factors that are not yet fully understood.