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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.
See: This record
Not genetically inherited (Orphanet)
 
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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAL amyloidosis
Follow this link to review classifications for AL amyloidosis in Orphanet.

Professional guidelines

PubMed

Diagnosis and Treatment of AL Amyloidosis.
Palladini G, Milani P
Drugs 2023 Feb;83(3):203-216. Epub 2023 Jan 18 doi: 10.1007/s40265-022-01830-z. PMID: 36652193
IgM monoclonal gammopathies of clinical significance: diagnosis and management.
Khwaja J, D'Sa S, Minnema MC, Kersten MJ, Wechalekar A, Vos JM
Haematologica 2022 Sep 1;107(9):2037-2050. doi: 10.3324/haematol.2022.280953. PMID: 35770530Free PMC Article
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
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

How I treat AL amyloidosis.
Palladini G, Merlini G
Blood 2022 May 12;139(19):2918-2930. doi: 10.1182/blood.2020008737. PMID: 34517412
When to Suspect a Diagnosis of Amyloidosis.
Vaxman I, Gertz M
Acta Haematol 2020;143(4):304-311. Epub 2020 Apr 27 doi: 10.1159/000506617. PMID: 32340017
Cardiac amyloidosis.
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
AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125
Systemic amyloidosis.
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

Diagnosis and Treatment of AL Amyloidosis.
Palladini G, Milani P
Drugs 2023 Feb;83(3):203-216. Epub 2023 Jan 18 doi: 10.1007/s40265-022-01830-z. PMID: 36652193
How I treat AL amyloidosis.
Palladini G, Merlini G
Blood 2022 May 12;139(19):2918-2930. doi: 10.1182/blood.2020008737. PMID: 34517412
When to Suspect a Diagnosis of Amyloidosis.
Vaxman I, Gertz M
Acta Haematol 2020;143(4):304-311. Epub 2020 Apr 27 doi: 10.1159/000506617. PMID: 32340017
AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125
Systemic amyloidosis.
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

Therapy

Systemic AL amyloidosis: current approach and future direction.
Bou Zerdan M, Nasr L, Khalid F, Allam S, Bouferraa Y, Batool S, Tayyeb M, Adroja S, Mammadii M, Anwer F, Raza S, Chaulagain CP
Oncotarget 2023 Apr 26;14:384-394. doi: 10.18632/oncotarget.28415. PMID: 37185672Free PMC Article
How I treat AL amyloidosis.
Palladini G, Merlini G
Blood 2022 May 12;139(19):2918-2930. doi: 10.1182/blood.2020008737. PMID: 34517412
Daratumumab-Based Treatment for Immunoglobulin Light-Chain Amyloidosis.
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
Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Daratumumab plus CyBorD for patients with newly diagnosed AL amyloidosis: safety run-in results of ANDROMEDA.
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

Prognosis

Patients with a cardiac complete response in AL amyloidosis have survival rates similar to those of a matched general population.
Muchtar E, Geyer S, Merlini G, Gertz MA
Blood 2024 Aug 15;144(7):790-793. doi: 10.1182/blood.2024024623. PMID: 38820591
Daratumumab plus CyBorD for patients with newly diagnosed AL amyloidosis: safety run-in results of ANDROMEDA.
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
AL amyloidosis: advances in diagnostics and treatment.
Ryšavá R
Nephrol Dial Transplant 2019 Sep 1;34(9):1460-1466. doi: 10.1093/ndt/gfy291. PMID: 30299492
Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment.
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
Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements.
Kumar S, Dispenzieri A, Lacy MQ, Hayman SR, Buadi FK, Colby C, Laumann K, Zeldenrust SR, Leung N, Dingli D, Greipp PR, Lust JA, Russell SJ, Kyle RA, Rajkumar SV, Gertz MA
J Clin Oncol 2012 Mar 20;30(9):989-95. Epub 2012 Feb 13 doi: 10.1200/JCO.2011.38.5724. PMID: 22331953Free PMC Article

Clinical prediction guides

Recurrent Glomerular Disease after Kidney Transplantation: Diagnostic and Management Dilemmas.
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
Diagnosis and management of systemic light chain AL amyloidosis.
Bhutani D, Lentzsch S
Pharmacol Ther 2020 Oct;214:107612. Epub 2020 Jun 17 doi: 10.1016/j.pharmthera.2020.107612. PMID: 32562825
Multiparametric Echocardiography Scores for the Diagnosis of Cardiac Amyloidosis.
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
Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment.
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
Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy.
Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, Leone O, Farsad M, Ciliberti P, Bacchi-Reggiani L, Fallani F, Branzi A, Rapezzi C
J Am Coll Cardiol 2005 Sep 20;46(6):1076-84. doi: 10.1016/j.jacc.2005.05.073. PMID: 16168294

Recent systematic reviews

Global epidemiology of amyloid light-chain amyloidosis.
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
Systematic literature review of evidence in amyloid light-chain amyloidosis.
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
Efficacy and Safety of Daratumumab-based Regimens in Pretreated Light Chain (AL) Amyloidosis: A Systematic Review.
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
Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Coexistence of aortic valve stenosis and cardiac amyloidosis: echocardiographic and clinical significance.
Peskó G, Jenei Z, Varga G, Apor A, Vágó H, Czibor S, Prohászka Z, Masszi T, Pozsonyi Z
Cardiovasc Ultrasound 2019 Dec 26;17(1):32. doi: 10.1186/s12947-019-0182-y. PMID: 31878928Free PMC Article

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