NORD gratefully acknowledges James Hoffman, MD, Division of Hematology/Oncology, Sylvester Cancer Center, University of Miami, for assistance in the preparation of this report.
Subdivisions of Amyloidosis
- familial amyloidosis
- primary amyloidosis
- secondary amyloidosis
- senile amyloidosis
- AL amyloidosis
- AA amyloidosis
- AF amyloidosis
- dialysis-related beta2-microglobulin amyloidosis
- dialysis-related amyloidosis
Amyloidosis is a systemic disorder that is classified into several types. The different types of systemic amyloidosis are classified as primary, secondary or familial (hereditary). Primary amyloidosis (also called AL, or ‘light chain’) is the most common type of systemic amyloidosis. AL results from an abnormality (dyscrasia) of plasma cells (a type of white blood cell) in the bone marrow and is closely related to multiple myeloma. Secondary (AA) amyloidosis is derived from the inflammatory protein serum amyloid A. AA occurs in association with chronic inflammatory disease such as the rheumatic diseases, Familial Mediterranean Fever, chronic inflammatory bowel disease, tuberculosis or empyema. Familial amyloidosis is a rare type of amyloidosis that is caused by an abnormal gene. There are several abnormal genes that can cause hereditary amyloidosis, but the most common type of hereditary amyloidosis is called ATTR and caused by mutations in the transthyretin (TTR) gene. Senile amyloidosis, in which the amyloid is derived from wild-type (normal) transthyretin, is a slowly progressive disease that affects the hearts of elderly men. Amyloid deposits may occasionally occur in isolation without evidence of a systemic disease; isolated bladder or tracheal amyloid are the most common such presentations. Dialysis-related beta2-microglobulin amyloidosis is a type of systemic amyloidosis that can occur in individuals who have experienced long-term kidney dialysis to remove accumulated impurities or wastes in the blood by mechanical filtration. This form of amyloidosis, also known as ABM2 (amyloid associated with the beta-2m protein), is associated with the aggregation of beta2-microglobulin, a type of amyloid protein that is cleared in the normally-functioning kidney. Dialysis-related beta2-microglobulin amyloidosis also occurs in patients with near end-stage renal disease. It does not affect individuals with normal or mildly reduced renal function or patients with a functioning renal transplant.
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