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AL amyloidosis(AL)

MedGen UID:
75674
Concept ID:
C0268381
Disease or Syndrome
Synonyms: AL; Amyloidosis, systemic; Immunoglobulin-related amyloidosis
SNOMED CT: Amyloid light-chain amyloidosis (23132008); Primary amyloidosis of light chain type (23132008); AL amyloidosis (23132008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019438
OMIM®: 254500
Orphanet: ORPHA85443

Definition

A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Palladini G, Milani P
Drugs 2023 Feb;83(3):203-216. Epub 2023 Jan 18 doi: 10.1007/s40265-022-01830-z. PMID: 36652193
Uffing A, Hullekes F, Riella LV, Hogan JJ
Clin J Am Soc Nephrol 2021 Nov;16(11):1730-1742. Epub 2021 Oct 22 doi: 10.2215/CJN.00280121. PMID: 34686531Free PMC Article
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article

Recent clinical studies

Etiology

Bal S, Landau H
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):682-688. doi: 10.1182/hematology.2021000305. PMID: 34889374Free PMC Article
Vaxman I, Gertz M
Acta Haematol 2020;143(4):304-311. Epub 2020 Apr 27 doi: 10.1159/000506617. PMID: 32340017
Martinez-Naharro A, Hawkins PN, Fontana M
Clin Med (Lond) 2018 Apr 1;18(Suppl 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30. PMID: 29700090Free PMC Article
Jelinek T, Kufova Z, Hajek R
Crit Rev Oncol Hematol 2016 Mar;99:249-60. Epub 2016 Jan 15 doi: 10.1016/j.critrevonc.2016.01.004. PMID: 26806146
Wechalekar AD, Gillmore JD, Hawkins PN
Lancet 2016 Jun 25;387(10038):2641-2654. Epub 2015 Dec 21 doi: 10.1016/S0140-6736(15)01274-X. PMID: 26719234

Diagnosis

Lee YS, Huang J
Ann Acad Med Singap 2023 Nov 29;52(11):559-560. doi: 10.47102/annals-acadmedsg.2023370. PMID: 38920144
Palladini G, Milani P
Drugs 2023 Feb;83(3):203-216. Epub 2023 Jan 18 doi: 10.1007/s40265-022-01830-z. PMID: 36652193
Herrera GA
Ultrastruct Pathol 2021 Jul-Sep;45(4-5):267-275. Epub 2021 Sep 5 doi: 10.1080/01913123.2021.1972065. PMID: 34482805
Vaxman I, Gertz M
Acta Haematol 2020;143(4):304-311. Epub 2020 Apr 27 doi: 10.1159/000506617. PMID: 32340017
Cibeira MT, Ortiz-Pérez JT, Quintana LF, Fernádez de Larrea C, Tovar N, Bladé J
Acta Haematol 2020;143(4):335-342. Epub 2020 Apr 1 doi: 10.1159/000506760. PMID: 32235118

Therapy

Wechalekar AD, Sanchorawala V
Blood 2022 Dec 1;140(22):2317-2322. doi: 10.1182/blood.2021014613. PMID: 35507692
Palladini G, Merlini G
Blood 2022 May 12;139(19):2918-2930. doi: 10.1182/blood.2020008737. PMID: 34517412
Bal S, Landau H
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):682-688. doi: 10.1182/hematology.2021000305. PMID: 34889374Free PMC Article
Kastritis E, Palladini G, Minnema MC, Wechalekar AD, Jaccard A, Lee HC, Sanchorawala V, Gibbs S, Mollee P, Venner CP, Lu J, Schönland S, Gatt ME, Suzuki K, Kim K, Cibeira MT, Beksac M, Libby E, Valent J, Hungria V, Wong SW, Rosenzweig M, Bumma N, Huart A, Dimopoulos MA, Bhutani D, Waxman AJ, Goodman SA, Zonder JA, Lam S, Song K, Hansen T, Manier S, Roeloffzen W, Jamroziak K, Kwok F, Shimazaki C, Kim JS, Crusoe E, Ahmadi T, Tran N, Qin X, Vasey SY, Tromp B, Schecter JM, Weiss BM, Zhuang SH, Vermeulen J, Merlini G, Comenzo RL; ANDROMEDA Trial Investigators
N Engl J Med 2021 Jul 1;385(1):46-58. doi: 10.1056/NEJMoa2028631. PMID: 34192431
Wechalekar AD, Chakraborty R, Lentzsch S
Hematol Oncol Clin North Am 2020 Dec;34(6):1027-1039. Epub 2020 Oct 1 doi: 10.1016/j.hoc.2020.08.016. PMID: 33099421

Prognosis

Dispenzieri A, Kastritis E, Wechalekar AD, Schönland SO, Kim K, Sanchorawala V, Landau HJ, Kwok F, Suzuki K, Comenzo RL, Berg D, Liu G, Kumar A, Faller DV, Merlini G
Leukemia 2022 Jan;36(1):225-235. Epub 2021 Jun 24 doi: 10.1038/s41375-021-01317-y. PMID: 34168284Free PMC Article
Palladini G, Kastritis E, Maurer MS, Zonder J, Minnema MC, Wechalekar AD, Jaccard A, Lee HC, Bumma N, Kaufman JL, Medvedova E, Kovacsovics T, Rosenzweig M, Sanchorawala V, Qin X, Vasey SY, Weiss BM, Vermeulen J, Merlini G, Comenzo RL
Blood 2020 Jul 2;136(1):71-80. doi: 10.1182/blood.2019004460. PMID: 32244252Free PMC Article
Ryšavá R
Nephrol Dial Transplant 2019 Sep 1;34(9):1460-1466. doi: 10.1093/ndt/gfy291. PMID: 30299492
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
van Gameren II, Lokhorst H, Hazenberg BP, Vellenga E
Neth J Med 2004 Apr;62(4):106-13. PMID: 15255079

Clinical prediction guides

van Ede ES, Hoeks MPA, Hofland J, Linssen VD, van Kuppevelt TH, Versteeg EM, Hafmans TG, Diepstra A, Kusters B, Vermorgen SMM
BMC Anesthesiol 2023 Jun 21;23(1):217. doi: 10.1186/s12871-023-02147-4. PMID: 37344791Free PMC Article
Uffing A, Hullekes F, Riella LV, Hogan JJ
Clin J Am Soc Nephrol 2021 Nov;16(11):1730-1742. Epub 2021 Oct 22 doi: 10.2215/CJN.00280121. PMID: 34686531Free PMC Article
Vaxman I, Gertz MA
Leuk Lymphoma 2021 Jul;62(7):1544-1553. Epub 2021 Jan 28 doi: 10.1080/10428194.2021.1873320. PMID: 33508994
Boldrini M, Cappelli F, Chacko L, Restrepo-Cordoba MA, Lopez-Sainz A, Giannoni A, Aimo A, Baggiano A, Martinez-Naharro A, Whelan C, Quarta C, Passino C, Castiglione V, Chubuchnyi V, Spini V, Taddei C, Vergaro G, Petrie A, Ruiz-Guerrero L, Moñivas V, Mingo-Santos S, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Perlini S, Pontone G, Gillmore J, Hawkins PN, Garcia-Pavia P, Emdin M, Fontana M
JACC Cardiovasc Imaging 2020 Apr;13(4):909-920. Epub 2019 Dec 18 doi: 10.1016/j.jcmg.2019.10.011. PMID: 31864973
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article

Recent systematic reviews

Li X, Yu Y, Yu H, Chen M, Zhang X, Wu Y
J Cancer Res Clin Oncol 2024 Apr 15;150(4):193. doi: 10.1007/s00432-024-05733-2. PMID: 38619663Free PMC Article
Kumar N, Zhang NJ, Cherepanov D, Romanus D, Hughes M, Faller DV
Orphanet J Rare Dis 2022 Jul 19;17(1):278. doi: 10.1186/s13023-022-02414-6. PMID: 35854312Free PMC Article
Lee C, Lam A, Kangappaden T, Olver P, Kane S, Tran D, Ammann E
J Comp Eff Res 2022 Apr;11(6):451-472. Epub 2022 Feb 21 doi: 10.2217/cer-2021-0261. PMID: 35188424
Ehsan H, Rafae A, Masood A, Wahab A, Sana MK, Ansar I, Neupane K, Umar A, Ehsan A, Hashmi H
Clin Lymphoma Myeloma Leuk 2022 May;22(5):e285-e292. Epub 2021 Nov 1 doi: 10.1016/j.clml.2021.10.014. PMID: 34879994
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805

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