Systemic amyloidosis is a rare condition

By SWA

Systemic amyloidosis is a rare condition characterized by the deposition of abnormal proteins called amyloids in various tissues and organs throughout the body. The exact cause of systemic amyloidosis is not always clear, but it typically involves the misfolding and accumulation of specific proteins. There are several types of systemic amyloidosis, each associated with different precursor proteins:

  1. AL (Light Chain) Amyloidosis: This type is the most common form of systemic amyloidosis. It occurs when abnormal plasma cells in the bone marrow produce excessive amounts of light chain proteins (immunoglobulin light chains). These misfolded light chains then form amyloid deposits in various organs, including the heart, kidneys, liver, and nerves.

  2. AA (Secondary) Amyloidosis: AA amyloidosis is usually secondary to chronic inflammatory conditions, such as rheumatoid arthritis or chronic infections. Inflammation triggers the liver to produce a protein called serum amyloid A (SAA), which can misfold and deposit as amyloid in various tissues.

  3. ATTR (Transthyretin) Amyloidosis: ATTR amyloidosis is caused by mutations in the transthyretin (TTR) gene, which produces a protein that carries thyroid hormone and vitamin A in the blood. Mutated TTR proteins can misfold and form amyloid deposits in various tissues, including the nerves (hereditary ATTR amyloidosis) or the heart (wild-type ATTR amyloidosis).

  4. Aβ2M (Beta-2 Microglobulin) Amyloidosis: This form of amyloidosis is seen in individuals undergoing long-term hemodialysis for kidney failure. Beta-2 microglobulin, a protein that is normally removed by healthy kidneys, accumulates in the blood and can deposit as amyloid in joints and tendons.

The specific cause of systemic amyloidosis may vary depending on the type, but it generally involves abnormal protein folding and deposition in tissues. Genetics, chronic inflammation, and other underlying conditions can play a role in predisposing individuals to develop amyloidosis. Early diagnosis and appropriate treatment are crucial in managing this condition, as it can lead to serious organ damage if left untreated.

If you or someone you know is suspected of having systemic amyloidosis, it is important to consult with a healthcare professional for proper evaluation and management.

 

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