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".
|Classification and external resources|
Signs and symptomsEdit
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.
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 melphalan and dexamethasone has been found effective in those who are ineligible for stem cell transplantation, and a combination of bortezomib and dexamethasone is now in widespread clinical use.
Median survival for patients diagnosed with AL amyloidosis was 13 months in the early 1990s, but had improved to c. 40 months a decade later.
AL amyloidosis is a rare disease; only 1200 to 3200 new cases are reported each year in the United States. Two thirds of patients with AL amyloidosis are male and less than 5% of patients are under 40 years of age.
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- UK NHS National Amyloidosis Centre Patient Information Site: information on AL amyloidosis
- Stanford University Amyloid Center
- Boston University Amyloid Treatment and Research Program
- Diseases with monoclonal light chain deposition - AL Amyloidosis
- List of amyloidosis patient support groups
- List of major amyloidosis medical treatment research centers
- Great Britain National Amyloidosis Center
- France National Reference Center for AL Amyloidosis
- Italy Centro per lo studio e la Cura delle Amiloidosi Sistemiche