AL amyloidosis
| AL amyloidosis | |
|---|---|
| Other names | Primary systemic amyloidosis (PSA), primary amyloidosis |
| Specialty | Hematology |
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis.[1] 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.[2][3] An abnormal light chain in urine is known as Bence Jones protein.
Signs and symptoms
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 systemic AL amyloidosis.[4] Symptoms of kidney disease and kidney failure can include fluid retention, swelling, and shortness of breath.[5]
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
Causes
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal
Diagnosis
Both blood and 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.[5][9] Other diagnosis can be tissue biopsy. Tissue biopsy tests a tissue sample to look for amyloid deposits. The tissue is stained with red dye, and under a microscopic examination, amyloid proteins can be detected if the tissue turns an apple-green color.[10]
Treatment
The most effective treatment is autologous bone marrow transplants with stem cell rescues. However many patients are too weak to tolerate this approach.[11][12]
Other treatments can involve application of chemotherapy similar to that used in multiple myeloma.[12] A combination of melphalan and dexamethasone has been found effective in those who are ineligible for stem cell transplantation,[11] and a combination of bortezomib and dexamethasone is now in widespread clinical use.[13][14] Daratumumab, a monoclonal antibody to CD38, a protein that is expressed on plasma cells, was approved in US and EU for AL Amyloidosis in 2021.[15][16]
Prognosis
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.[17]
Epidemiology
AL amyloidosis is a rare disease; only 1200 to 3200 new cases are reported each year in the United States, and between 500 and 600 in the UK. Two thirds of patients with AL amyloidosis are male and less than 5% of patients are under 40 years of age.[5][18][8]
See also
References
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- ^ "Amyloidosis Causes, Diagnosis, Symptoms, and Treatment on MedicineNet.com".
- ^ "Amyloidosis and Kidney Disease". National Institute of Diabetes and Digestive and Kidney Diseases. Archived from the original on 20 November 2011. Retrieved 23 November 2011.
- PMID 36197414.
- ^ a b c d e UNC. "AL Amyloidosis". UNC. Archived from the original on 22 December 2011. Retrieved 22 November 2011.
- ^ "Amyloidosis". University of Maryland Medical Center. Archived from the original on 30 November 2011. Retrieved 23 November 2011.
- PMID 20194151.
- ^ a b "Understanding AL Amyloidosis". Amyloidosis Patient Information Site. Retrieved 27 September 2023.
- PMID 17699366.
- ^ "AL Amyloidosis". Amyloidosis Foundation. Retrieved 9 January 2022.
- ^ PMID 15070667.
- ^ a b "BU: Amyloid Treatment & Research Program". Archived from the original on 2008-07-20.
- PMID 26352777.
- PMID 18024372.
- ^ "FDA grants accelerated approval to Darzalex Faspro for newly diagnosed light chain amyloidosis". FDA. 11 June 2021.
- ^ "Darzalex". 17 September 2018.
- PMID 18162121.
- ^ "Primary AL". Amyloidosis Foundation. Archived from the original on 3 October 2011. Retrieved 23 November 2011.