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Amyloidosis is a group of diseases caused by certain proteins that misfold, accumulate and form amyloid deposits in tissues throughout the body. These abnormal protein fibers, called amyloid fibrils, can interfere with the structure and function of affected organs. There are around 30 different proteins that can form amyloid in humans, but only a few are linked to clinically significant illnesses.

Amyloidosis is classified according to the type of protein that causes it, and each type has its own set of symptoms. There are two types of systemic amyloidosis that can affect various parts of the body and are associated with other diseases. Patients with systemic AA amyloidosis have a chronic inflammatory illness, while those with systemic AL amyloidosis have an underlying bone marrow disorder.

Diagnosing amyloidosis can be difficult as its signs and symptoms can resemble those of more common illnesses. However, early diagnosis is crucial to prevent further organ damage. To determine the presence of amyloidosis, abnormal proteins in blood and urine can be analyzed. Additional testing such as thyroid and kidney function tests may be necessary for individuals with specific symptoms. Tissue samples can also be examined to confirm the presence of amyloidosis and determine the type of amyloid present. Various imaging tests can aid in the classification of amyloidosis, which can influence treatment choices.

The goal of therapy is to promote the function of injured organs while reducing the generation of the specific amyloid-forming protein. Different treatments are needed depending on the type of amyloidosis. For example, chemotherapy is used for AL amyloidosis, gene silencing therapies are used for hereditary ATTR amyloidosis, and anti-inflammatory medications are used for AA amyloidosis.

In summary, amyloidosis is a complex group of diseases that can cause significant harm to the body. Early diagnosis is essential, and treatment depends on the type of amyloidosis. While there are some available treatments, they remain limited, and further research is needed to develop more effective therapies.