Primary amyloidosis
| AL amyloidosis | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E85 |
| ICD-9-CM | 277.3 |
| OMIM | 254500 |
| DiseasesDB | 315 |
| MedlinePlus | 000533 |
| eMedicine | med/3363 |
Amyloid light-chain (AL) amyloidosis, primary systemic amyloidosis (PSA) or just primary amyloidosis is the most common form of systemic amyloidosis in the US. The disease is caused when a person's antibody-producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains. These light chains come together to form amyloid deposits which can cause serious damage to different organs. Abnormal light chains in urine are sometimes referred to as "Bence Jones protein".
AL amyloidosis can affect a wide range of organs, and consequently present with a range of symptoms. The kidneys are the most commonly affected organ in AL amyloidosis. Symptoms of kidney disease and renal failure can include fluid retention, swelling, and shortness of breath. In addition to kidneys, AL amyloidosis may affect the heart, peripheral nervous system, gastrointestinal tract, blood, lungs and skin. Heart complications, which affect more than a third of AL patients, include heart failure and irregular heart beat. Other symptoms can include stroke, gastrointestinal disorders, enlarged liver, diminished spleen function, diminished function of the adrenal and other endocrine glands, skin color change or growths, lung problems, bleeding and bruising problems, fatigue and weight loss.
AL amyloidosis can occur spontaneously. It is, however, often associated with other blood disorders, such as multiple myeloma and Waldenström's macroglobulinemia. About 10% to 15% of patients with multiple myeloma may develop overt AL amyloidosis.
Both blood and the urine can be tested for the light chains, which may form amyloid deposits, causing disease. However, the diagnosis requires a sample of an affected organ.
The most effective treatment is autologous bone marrow transplants with stem cell rescues. However many patients are too weak to tolerate this approach.
Other treatments can involve application of chemotherapy similar to that used in multiple myeloma. A combination of bortezomib and dexamethasone has been proposed, as has melphalan and dexamethasone.
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