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Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. [4] There are several non-specific and vague signs and symptoms associated with amyloidosis. [5] These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and feeling faint with standing. [5]
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal plasma cells, and, although AL amyloidosis can occur without diagnosis of another disorder, it is often associated with other plasma cell disorders, such as multiple myeloma and Waldenström's macroglobulinemia. [6]
Amyloidosis is confirmed by histological identification of amyloid deposits. At this point, amyloid typing with immunochemical staining is necessary, as the differential diagnosis includes AA amyloidosis, AL amyloidosis , hereditary amyloidosis , dialysis-related amyloidosis and age-related systemic amyloidosis .
To date, 37 human proteins have been found to form amyloid in pathology and be associated with well-defined diseases. [2] The International Society of Amyloidosis classifies amyloid fibrils and their associated diseases based upon associated proteins (for example ATTR is the group of diseases and associated fibrils formed by TTR). [3]
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA), [1] is a disease that typically affects the heart and tendons of elderly people. It is caused by the accumulation of a wild-type (that is to say a normal ) protein called transthyretin .
A SAP scan is a type of nuclear medicine imaging test which uses iodine-123 (123 I) and serum amyloid P component (SAP) to diagnose amyloidosis. [1] [2]In patients with amyloidosis, large deposits of SAP coat the affected organs, in addition to the low levels normally found in the blood stream. [3]
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