Amyloidosis is a rare, serious condition characterized by the abnormal accumulation of amyloid proteins in various tissues and organs throughout the body. These misfolded proteins aggregate into amyloid deposits, which disrupt normal tissue function and can lead to a range of health problems depending on the organs affected. There are several types of amyloidosis, including primary (AL), secondary (AA), and hereditary (ATTR) forms, each with different underlying causes and implications. The primary cause of amyloidosis is the production of abnormal amyloid proteins by plasma cells in cases of multiple myeloma or other related conditions, leading to primary amyloidosis (AL). Secondary amyloidosis (AA) arises from chronic inflammatory or infectious diseases, such as rheumatoid arthritis or tuberculosis, which trigger the production of amyloid A protein. Hereditary amyloidosis (ATTR) is caused by genetic mutations that lead to the production of abnormal transthyretin proteins, which can accumulate and cause tissue damage. Complications of amyloidosis depend on the extent and location of amyloid deposits. Commonly affected organs include the heart, kidneys, liver, and nervous system. Cardiac involvement can lead to restrictive cardiomyopathy, characterized by impaired heart function. Renal amyloidosis can cause nephrotic syndrome or kidney failure. Peripheral neuropathy may result from nerve involvement, causing pain, numbness, or weakness. Additionally, amyloidosis can lead to liver enlargement and dysfunction. Treatment focuses on managing the underlying cause, such as using medications to control plasma cell production in AL amyloidosis or addressing chronic inflammation in AA amyloidosis. Supportive care and monitoring are essential to manage symptoms and prevent complications.
