Raras
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Amiloidose AL
ORPHA:85443CID-10 · E85.4CID-11 · 5D00.0DOENÇA RARA

A Amiloidose AL é uma doença das células plasmáticas (um tipo de glóbulo branco) caracterizada pelo acúmulo e depósito de fibrilas amiloides insolúveis, que são proteínas anormais que não se dissolvem. Elas se formam a partir de partes específicas de anticorpos (conhecidas como cadeias leves de imunoglobulina) que se dobram de maneira errada, sendo geralmente produzidas por um tumor dessas células plasmáticas. A doença normalmente se manifesta como amiloidose sistêmica primária (ASP), quando afeta múltiplos órgãos, e com menos frequência como amiloidose localizada primária (ALP), restrita a um único órgão.

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Introdução

O que você precisa saber de cara

📋

A Amiloidose AL é uma doença das células plasmáticas (um tipo de glóbulo branco) caracterizada pelo acúmulo e depósito de fibrilas amiloides insolúveis, que são proteínas anormais que não se dissolvem. Elas se formam a partir de partes específicas de anticorpos (conhecidas como cadeias leves de imunoglobulina) que se dobram de maneira errada, sendo geralmente produzidas por um tumor dessas células plasmáticas. A doença normalmente se manifesta como amiloidose sistêmica primária (ASP), quando afeta múltiplos órgãos, e com menos frequência como amiloidose localizada primária (ALP), restrita a um único órgão.

Pesquisas ativas
41 ensaios
279 total registrados no ClinicalTrials.gov
Publicações científicas
3.362 artigos
Último publicado: 2026 Apr 8
Medicamentos
10 registrados
TAFAMIDIS MEGLUMINE, TAFAMIDIS, DEXAMETHASONE

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10 medicamentos registrados
Ver detalhes, fases e interações →
TAFAMIDIS MEGLUMINETAFAMIDISDEXAMETHASONETHALIDOMIDEFILGRASTIMDARATUMUMABIXAZOMIBLENALIDOMIDEDOXYCYCLINEDOXYCYCLINE ANHYDROUS

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
6.459
Germany
Início
Adult
🏥
SUS: Cobertura mínimaScore: 20%
1 medicamentos CEAFCID-10: E85.4
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
9 sintomas
❤️
Coração
8 sintomas
🫁
Pulmão
5 sintomas
🫘
Rins
5 sintomas
🩸
Sangue
3 sintomas
🧠
Neurológico
3 sintomas

+ 21 sintomas em outras categorias

Características mais comuns

90%prev.
Fadiga
Muito frequente (99-80%)
55%prev.
Amiloidose cardíaca de cadeia leve monoclonal
Frequente (79-30%)
55%prev.
Morfologia intersticial pulmonar anormal
Frequente (79-30%)
55%prev.
Aumento da concentração circulante de troponina I
Frequente (79-30%)
55%prev.
Aumento da concentração circulante de NT-proBNP
Frequente (79-30%)
55%prev.
Anormalidade do rim
Frequente (79-30%)
55sintomas
Muito frequente (1)
Frequente (21)
Ocasional (26)
Muito raro (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 características clínicas mais associadas, ordenadas por frequência.

FadigaFatigue
Muito frequente (99-80%)90%
Amiloidose cardíaca de cadeia leve monoclonalMonoclonal light chain cardiac amyloidosis
Frequente (79-30%)55%
Morfologia intersticial pulmonar anormalAbnormal pulmonary interstitial morphology
Frequente (79-30%)55%
Aumento da concentração circulante de troponina IIncreased circulating troponin I concentration
Frequente (79-30%)55%
Aumento da concentração circulante de NT-proBNPIncreased circulating NT-proBNP concentration
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico3.362PubMed
Últimos 10 anos200publicações
Pico2025104 papers
Linha do tempo
2026Hoje · 2026🧪 1991Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado2
3Fase 37
2Fase 28
1Fase 13
·Pré-clínico10
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 20 ensaios
✓ Aprovados — podem ser usados hoje
TAFAMIDIS MEGLUMINETAFAMIDIS
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Amiloidose AL

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT06649695 · A Phase II Trial of Teclistamab in Participants With Previou…Recrutando
PHASE2
NCT06383143 · Promoting Diagnosis and Management of AL in Italy (ProDigALI…Recrutando
NCT04839003 · A Registry of AL Amyloidosis (ReAL)Recrutando
NCT06205953 · A EUropean REgistry and Sample Sharing networK to Promote th…Recrutando
NCT04847453 · Venetoclax, MLN9708 (Ixazomib Citrate) and Dexamethasone for…Recrutando
PHASE1
NCT05652335 · A Study of JNJ-79635322 in Participants With Relapsed or Ref…Recrutando
PHASE1
NCT05898646 · Daratumumab Maintenance Therapy for Improving Survival in Pa…Recrutando
PHASE2
NCT05444920 · The Italian Transthyretin Amyloidosis Web-NetworkRecrutando
NCT07151690 · BCMA/CD3 Bispecific Antibody Treatment for Newly Diagnosed A…Recrutando
PHASE2
NCT07250269 · Study of GC012F, CAR-T Therapy Targeting CD19 and BCMA in Ch…Recrutando
PHASE1
NCT07081646 · A Phase 1b/2 Study of CAR T Cell Therapy Targeting CD19 and …Recrutando
PHASE1, PHASE2
NCT01408225 · Ohio State University Multiple Myeloma and Amyloidosis Data …Recrutando
NCT06192979 · Optimize First-line Treatment for AL Amyloidosis With t (11;…Recrutando
NA
NCT06627309 · Rapid dFLC Response Predict CHR in AL AmyloidosisRecrutando
NCT06569147 · Elranatamab in Patients With Relapsed or Refractory AL Amylo…Recrutando
PHASE1, PHASE2
NCT07448779 · Investigating the Pathogenic Role of N-glycosylation in AL A…Recrutando
NCT07448935 · One Gene, Two Diseases: the Pathologic Role of IGLV1-44 in A…Recrutando
NCT07172243 · BE.Amycon Biobank & Data Registry UZ LeuvenRecrutando
NCT05145816 · Phase 1/2a Study of Belantamab Mafodotin in Relapsed or Refr…Recrutando
PHASE1, PHASE2
NCT07388602 · A Study to Evaluate the Safety and Efficacy of SCTC21C in Co…Recrutando
PHASE3

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
2.185 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.185

#1

Blood phosphorylated tau elevation as a biomarker in immunoglobulin light chain and transthyretin amyloidosis.

Nature medicine2026 Mar 11

Elevated blood levels of phosphorylated tau (p-tau) are diagnostic of Alzheimer disease and are associated with the deposition of amyloid-β in the cerebral neuropil. Elevated p-tau levels have also been associated with cerebral deposition of Danish amyloid and prion protein amyloid. Here we analyzed p-tau in serum from four different cohorts of people with the most common types of systemic amyloidosis, transthyretin (ATTR) amyloidosis and immunoglobulin light chain (AL) amyloidosis. We found higher levels of serum p-tau181 in the AL and ATTR groups than in controls. Subsequent analyses revealed that these effects were more pronounced in the presence of polyneuropathy (PNP) and in AL compared to ATTR amyloidosis. Individuals with different forms of PNP that were not due to amyloidosis did not exhibit elevated p-tau181 levels. In cases of presymptomatic (genetic) ATTR, p-tau181 levels increased as a function of predicted years from symptom onset. Additional measurement of p-tau217 in one cohort revealed similar increases, and discriminated people with AL and those with ATTR from controls equally as well as p-tau181. These findings suggest that elevated serum p-tau levels are not specific to Alzheimer disease and may also serve as a diagnostic tool of ATTR and AL amyloidosis, with potential utility in distinguishing amyloidosis-related PNP from PNP of other etiologies.

#2

Prognostic Factors and Progression Biomarkers in AL Amyloidosis: Mapping Current Knowledge and Critical Gaps.

Blood2026 Mar 04

The therapeutic landscape for systemic immunoglobulin light chain (AL) amyloidosis has been revolutionized by daratumumab-based regimens, achieving 76% five-year overall survival in the landmark ANDROMEDA trial. However, the current prognostic models were developed using patient populations treated with now-suboptimal therapies, creating a critical gap between risk stratification models and contemporary outcomes. This comprehensive review analyses prognostic factors and progression biomarkers in AL, categorizing them into disease-specific (clone-related and organ-related) and patient-specific factors. Notably, traditional baseline biomarkers including difference between involved and uninvolved free light chains (dFLC) and bone marrow plasma cell burden are losing prognostic significance with effective clone-directed therapies. Emerging approaches show promise, including dynamic markers such as minimal residual disease by free light chain mass spectrometry, cardiac imaging parameters such as global longitudinal strain, and functional measures. There is an urgent need for validation studies and prognostic model refinement to identify high-risk patients who may benefit from interventions beyond anti-plasma cell therapy.

#3

Cryo-EM structures of light chain fibrils from abdominal fat biopsies of multiple myeloma patients.

Nature communications2026 Feb 24

Multiple myeloma (MM) is a hematological malignancy characterized by the abnormal proliferation of plasma cells in the bone marrow and is closely associated with systemic light chain amyloidosis (AL), a disease triggered by the amyloid aggregation of antibody light chain (LC). High-resolution structures of amyloid LC fibrils from MM patients remain largely unexplored. Here, we extracted LC amyloid fibrils directly from abdominal fat biopsies of two living MM patients. Using cryo-electron microscopy (cryo-EM), we further determined the structures of three distinct LC fibril morphologies, which differ significantly from previously reported fibril structures derived from AL amyloidosis patients. Structural comparisons and computational analyses suggested distinct LC fibrillation mechanisms in MM compared to AL amyloidosis, highlighting a potential role of elevated protein concentration in driving LC aggregation in MM. These findings provide essential molecular insights into LC fibril formation in MM and offer a structural foundation for biological diagnosis of living MM patients based on accessible abdominal fat biopsy samples.

#4

Invasive pressure-volume loop and PET-MR phenotyping in transthyretin cardiac amyloidosis: a multimodal imaging case report.

European heart journal. Case reports2026 Feb

Cardiac amyloidosis (CA) is an under-recognized cause of heart failure in elderly patients. While diagnosis has traditionally relied on echocardiographic red flags and bone scintigraphy, novel tools may provide enhanced disease characterization. We present the case of a 78-year-old man with progressive symptoms of heart failure who was diagnosed with wild-type transthyretin cardiac amyloidosis (ATTRwt-CM) through conventional and advanced multimodal imaging. Initial clues included a discordance between QRS voltages on electrocardiography and increased left ventricular wall thickness on echocardiography, along with signs of elevated filling pressures. Speckle-tracking echocardiography revealed impaired regional myocardial deformation, global function, and work energetics. Serum and urine immunofixation excluded light chain (AL) amyloidosis. DPD scintigraphy confirmed amyloid deposition with a characteristic distribution. Genetic testing ruled out hereditary variants. PET imaging demonstrated myocardial uptake suggestive of amyloid infiltration and microcalcification. Cardiac MR revealed elevated native T1 and extracellular volume fractions. Invasive pressure-volume loop assessment confirmed biventricular stiffness and impaired contractile reserve, despite clinical compensation at rest. These findings supported early initiation of Tafamidis in a minimally symptomatic patient. This case highlights the role of advanced diagnostics in refining cardiac amyloidosis phenotyping and guiding individualized therapeutic decisions.

#5

Pleural amyloidosis: timely unmasking of apple-green birefringence in pleural biopsy.

BMJ case reports2026 Feb 04

8%-25% of cases of pleural effusion remain undiagnosed after routine workup. Some of the causes for pleural effusion are less often considered as a differential diagnosis owing to their rarity. While not all require a pleural biopsy, it remains a valuable tool for the definitive diagnosis of uncommon pleural effusions and guides treatment decisions. This case exemplifies the value of timely intervention in uncovering an unconventional form of pleural amyloidosis. An elderly male presenting with right-sided pleural effusion. The patient underwent timely medical thoracoscopy and was subsequently diagnosed with AL amyloidosis. Following therapy, the patient demonstrated marked clinical improvement, with radiographic resolution of the effusion and a favourable haematologic response.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.519 artigos no totalmostrando 198

2026

The Safety and Efficacy of Commercial BCMA-Directed CAR T-Cell Therapy in Systemic AL Amyloidosis With Concurrent Myeloma.

American journal of hematology
2026

Characteristics and Clinical Significance of Myocardial Work in Cardiac Light-Chain Amyloidosis: Pressure-Volume Loop Analysis Based on Cardiac Magnetic Resonance.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
2026

Long-Term Outcomes in Patients with Renal Systemic Light Chain Amyloidosis.

Kidney diseases (Basel, Switzerland)
2026

Daratumumab plus bortezomib and dexamethasone (Dara-VD) in newly diagnosed Mayo 2004 stage IIIA and IIIB light-chain amyloidosis: Long-term follow-up results from a prospective phase 2 study.

British journal of haematology
2026

Monoclonal Gammopathies of Thrombotic and Hemorrhagic Significance: Mapping into a classification schema.

Journal of thrombosis and haemostasis : JTH
2026

Teclistamab Treatment Followed by Heart Transplantation for Advanced Immunoglobulin Light Chain Amyloid Cardiomyopathy.

JACC. Case reports
2026

A Case of Amyloid Light-Chain Amyloidosis Presenting as Colitis.

Cureus
2026

Zanubrutinib in AL Amyloidosis Associated With Waldenström Macroglobulinemia and Other B-Cell Non-Hodgkin Lymphoma.

American journal of hematology
2026

Talquetamab induces deep responses in heavily pre-treated patients with systemic light-chain amyloidosis.

Annals of hematology
2026

Blood phosphorylated tau elevation as a biomarker in immunoglobulin light chain and transthyretin amyloidosis.

Nature medicine
2026

Early treatment switch in cardiac AL amyloidosis: a case of suboptimal response to first-line Dara-CyBorD regimen followed by switch to teclistamab.

Leukemia &amp; lymphoma
2026

Long-term outcomes of autologous stem cell transplantation for AL amyloidosis: a 15-year experience from a Chinese referral center and a comparison of different eras.

Blood cancer journal
2026

Right Diaphragmatic Paralysis as Initial Manifestation of AL Amyloidosis.

The American journal of medicine
2026

Clinical impact of lilac-colored aggregates on may-Grünwald-Giemsa-stained bone marrow smears in patients with amyloid light-chain amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2026

Non-invasive differentiation of light chain amyloidosis and multiple myeloma based on Raman spectroscopy analysis using one-dimensional convolutional neural networks.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy
2026

Predicting Early Mortality in Newly Diagnosed AL Amyloidosis: Development and Validation of the PACE Score for Daratumumab-Treated Patients.

American journal of hematology
2026

A Case of AL Amyloidosis-Associated Arthritis Initially Misdiagnosed as Rheumatoid Arthritis.

Modern rheumatology case reports
2026

Prognostic Factors and Progression Biomarkers in AL Amyloidosis: Mapping Current Knowledge and Critical Gaps.

Blood
2026

Sodium-Glucose Cotransporter 2 Inhibitors in Patients with Heart Failure and Transthyretin or Light Chain Amyloidosis: A Real-World Analysis.

Arquivos brasileiros de cardiologia
2026

Comparative evaluation of free light chain assays in AL amyloidosis: Performance of Sebia versus Freelite and N-Latex.

Practical laboratory medicine
2026

Current Standards and Perspectives in Proteomics for Cardiac Amyloidosis.

Analytical chemistry
2026

Case Report: Targeted interleukin-6 blockade by siltuximab for cytokine release syndrome control and infection limitation in thirteen patients treated with bi-specific T-cell engagers.

Frontiers in immunology
2026

Negative [99mTc]Tc -DPD Scintigraphy, Presence of Monoclonal Protein and Biopsy Suggestive of AL Amyloidosis in a Patient With Homozygous p.Ala101Val Transthyretin Gene Variant.

Clinical case reports
2026

AL Amyloidosis Patients Continue to Benefit from HDCT/ASCT Consolidation in the Daratumumab Era.

Journal of clinical medicine
2026

Association Between Common Variable Immunodeficiency and Pulmonary Amyloidosis: Review.

Journal of clinical medicine
2026

The Evolving Landscape of Anti-Clonal Therapy in Newly Diagnosed Systemic Light-Chain (AL) Amyloidosis: Evidence- and Time-Based Comparison with Multiple Myeloma.

Life (Basel, Switzerland)
2026

Concurrence of renal amyloidosis and membranous nephropathy: a case series and literature review.

BMC nephrology
2026

Validity of Amyloidosis in the Danish National Patient Registry.

Clinical epidemiology
2026

A retrospective real-world study assessing diagnostic pattern of light-chain amyloidosis in Japan based on data from the medical data vision claims database.

Therapeutic advances in hematology
2026

Utilization and Prognosis of Cardiac Device Implantation in AL Versus ATTR Amyloidosis.

Pacing and clinical electrophysiology : PACE
2026

Monoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.

Journal of the American Academy of Dermatology
2026

Cryo-EM structures of light chain fibrils from abdominal fat biopsies of multiple myeloma patients.

Nature communications
2026

Invasive pressure-volume loop and PET-MR phenotyping in transthyretin cardiac amyloidosis: a multimodal imaging case report.

European heart journal. Case reports
2026

Case Report: Contrast adenosine stress echocardiography revealing microvascular dysfunction in cardiac AL amyloidosis.

Frontiers in cardiovascular medicine
2026

An Australian Amyloidosis Network analysis of Australian patients with immunoglobulin light chain amyloidosis treated with bortezomib-based chemotherapy.

Internal medicine journal
2026

Immunoglobulin Light Chain Amyloidosis: 2026 Update on Diagnosis, Prognosis, and Treatment.

American journal of hematology
2026

Hematologic response and kidney outcomes of monoclonal gammopathy of renal significance excluding AL amyloidosis: a report of six cases.

BMC nephrology
2026

A Phase 1 Study of Daratumumab, Ixazomib, and Dexamethasone in AL Amyloidosis.

American journal of hematology
2026

Hepatic-Predominant Immunoglobulin G Lambda Light Chain Amyloidosis Associated With Multiple Myeloma: A Report of an Exceptionally Rare Case.

Cureus
2026

Clinical practice pattern of management of plasma cell dyscrasia for kidney transplant candidates and recipients in the United States.

Journal of onco-nephrology
2026

Eligibility criteria for clinical trials in AL amyloidosis result in exclusion of nearly half of real-world patients.

HemaSphere
2026

Case Report: Image-enhanced endoscopic characteristics of gastric amyloidosis with narrow-band imaging comparison.

Frontiers in medicine
2026

Clinical characteristics and prognosis of immunoglobulin light chain amyloidosis patients.

Frontiers in medicine
2026

Outcomes of patients with systemic light chain amyloidosis treated with DVD front-line therapy.

Cardio-oncology (London, England)
2026

Extracellular Vesicles in Cardiac Amyloidosis: From Pathogenesis to Clinical Applications.

Diagnostics (Basel, Switzerland)
2026

Monoclonal gammopathy of renal significance in western China: A large cohort study dominated by amyloidosis with distinct clinical outcomes.

Clinics (Sao Paulo, Brazil)
2026

Prognostic Impact of Bone Marrow Plasma Cell Percentage in Patients With Systemic Light-Chain Amyloidosis: A Systematic Review and Meta-Analysis.

European journal of haematology
2026

The impact of cardiac amyloidosis on patients with multiple myeloma: a systematic review and meta-analysis.

Cardio-oncology (London, England)
2026

Bridging the Gap in AL and ATTR Cardiac Amyloidosis: Integrating Histopathology, Biomarkers, and Multimodal Imaging for Subtype-Specific Diagnosis.

Reviews in cardiovascular medicine
2026

Diagnostic Journeys and Delays in AL Amyloidosis: Insights From a Cross-Sectional Patient Survey.

Clinical lymphoma, myeloma &amp; leukemia
2026

Pleural amyloidosis: timely unmasking of apple-green birefringence in pleural biopsy.

BMJ case reports
2026

[Light chain amyloidosis: multidisciplinary management and innovative therapeutic strategies. SIC/ANMCO Consensus document of the Italian Cardiac Amyloidosis Network (RIAC)].

Giornale italiano di cardiologia (2006)
2026

Bridging Diagnostic Gaps in AL Cardiac Amyloidosis: The Emerging Role of 68Ga-FAPI PET/CT.

Clinical nuclear medicine
2025

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.

Cureus
2026

Raccoon eyes and macroglossia in AL amyloidosis.

QJM : monthly journal of the Association of Physicians
2026

Impact of Kidney Histology and Choice of Treatment on Survival in Patients with Multiple Myeloma.

Kidney360
2026

Primary (AL) Amyloidosis Following COVID-19 Infection: A Case Report.

Clinical case reports
2026

Challenging features of left ventricular wall thickening in a young patient with multiple myeloma and shock: when magnetic resonance imaging makes the difference-a case report.

European heart journal. Case reports
2026

Clinical Features of Systemic Amyloidosis: A Scoping Review.

Blood advances
2026

Right Ventricular-Pulmonary Artery Coupling as a Prognostic Marker in Cardiac Amyloidosis: A Comprehensive Review.

Life (Basel, Switzerland)
2026

American Society of Hematology (ASH) 2026 Guidelines on Diagnosis of Light Chain Amyloidosis.

Blood advances
2026

Past, Present, and Future of Dexamethasone in Multiple Myeloma and AL Amyloidosis.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2026

Clarifying the immunoglobulin light chain variable gene usage in Chinese patients with renal AL amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2025

Systemic light chain cardiac amyloidosis with atrioventricular block.

Frontiers in cardiovascular medicine
2025

Surgical Treatment of Primary Localized Cutaneous Nodular Amyloidosis of the Nose: Resection and Reconstruction With a Nasolabial Flap.

Cureus
2026

Frequency-adjusted daratumumab-based regimen versus bortezomib/dexamethasone in newly diagnosed AL amyloidosis: a matched-cohort study.

Annals of medicine
2026

Impact of disease-modifying therapies on imaging parameters in cardiac amyloidosis: A systematic review and meta-analysis.

Current problems in cardiology
2026

Nodular pulmonary amyloidosis presenting as a localized manifestation of lymphoproliferative disease: A three-case series.

Respiratory medicine case reports
2026

Small molecule stabilization of diverse amyloidogenic immunoglobulin light chains revealed by hydrogen-deuterium exchange mass spectrometry.

bioRxiv : the preprint server for biology
2025

Dermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and Treatment.

Cureus
2026

Hepatic response criteria in light chain amyloidosis: a multicenter validation study.

Haematologica
2026

Early Diagnosis of ATTR-CM Using Carpal Tunnel Biopsy Examination: EDUCATE: A United Kingdom Prospective Multicenter Study.

JACC. Heart failure
2026

Hepatic Response Dynamics in Newly Diagnosed Patients with Light-chain Amyloidosis: A Retrospective Cohort Study.

Advances in therapy
2026

Preclinical and preliminary clinical evaluation of [18F]Florbetazine for non-invasive PET detection of cardiac amyloidosis.

European journal of nuclear medicine and molecular imaging
2025

Multimodality Imaging in Cardiac Amyloidosis.

Journal of clinical medicine
2026

Biopsy-resolved cryo-EM structures of amyloid fibrils provide molecular insights into AL amyloidosis.

Proceedings of the National Academy of Sciences of the United States of America
2026

Silent progression: cardiac amyloidosis unmasking IgG lambda myeloma in an elderly patient.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2026

Prognostic significance of cardiac biomarkers in patients with AL amyloidosis treated with a daratumumab-based regimen.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2026

The role of cardiac imaging for diagnosis of cardiac amyloidosis: a systematic review and meta-analysis of test accuracy.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2026

Selective Cardiac Tc-99m DPD Retention With Markedly Reduced Extracardiac Uptake in Hereditary Transthyretin Amyloidosis.

Clinical nuclear medicine
2025

Kinetics of hematologic response in AL amyloidosis: Insights from clinical and cytogenetic subgroup analysis in the daratumumab era.

HemaSphere
2025

Proving Bone Marrow Plasma Cell Clonality by Flow Cytometry: An Important Tool in the Diagnosis of Immunoglobulin Light-Chain Amyloidosis.

Biomedicines
2025

Detection yield of surrogate tissue biopsies across amyloidosis classes: a large-scale analysis of 4,027 patients.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2025

Recurrence of light chain crystalline podocytopathy and tubulopathy after kidney transplantation achieving remission with an antimyeloma regimen.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
2025

Bortezomib combined with autologous stem cell transplantation overcomes cytogenetic abnormalities in AL amyloidosis.

International journal of hematology
2025

ALyzer3D.AI: a more generalizable deep learning predictor of light chain amyloidogenicity powered by structural and evolutionary Artificial Intelligence.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2026

2025 Update of Cellular Immunotherapy for Plasma Cell Disorders.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Clinical significance of t(11;14) translocation in systemic AL amyloidosis in the era of daratumumab therapy.

Clinical and experimental medicine
2025

Untwisted amyloid fibrils from a transgenic mouse model of AL amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2025

[ATTR Amyloidosis for Hand Surgeons: A Hidden, Treatable Systemic Disease].

Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V...
2025

Coronary microvascular dysfunction as an initial clue to the diagnosis of light-chain amyloidosis: a case report.

European heart journal. Case reports
2025

Cryo-EM structure of renal AL amyloid fibrils from a patient with λ1 light chain amyloidosis.

Nature communications
2026

Avoiding serious treatment-emergent adverse events in Waldenström macroglobulinemia patients.

Expert review of hematology
2026

Cryo-EM of Cardiac AL-224L Amyloid Reveals Shared Structural Motifs and Mutation-induced Differences in λ6 Light Chain Fibrils.

Journal of molecular biology
2026

Linvoseltamab in Patients With Relapsed/Refractory Multiple Myeloma in the LINKER-MM1 Study: Longer Follow-Up and Subgroup Analyses.

Clinical lymphoma, myeloma &amp; leukemia
2025

[Abdominal pain: It still can be a zebra].

Praxis
2025

A Case of AL Amyloidosis With Hepatomegaly as the Main Clinical Manifestation.

Clinical case reports
2026

Scintigraphy-Positive Light-Chain Cardiac Amyloidosis.

Journal of nuclear medicine technology
2026

Up-to-date review on heart transplantation and other advanced heart failure therapies in cardiac amyloidosis patients.

Future cardiology
2026

New Validated Staging System for Light Chain (AL) Amyloidosis With Stage IIIC Defining Ultra-Poor Risk: AL International Staging System.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2025

Monoclonal-related neuropathies: diagnosis, prognosis, and outcomes.

Hematology. American Society of Hematology. Education Program
2025

Endless possibilities and how to exploit them? What is the optimal treatment sequence?

Hematology. American Society of Hematology. Education Program
2026

Geometry over thickness: Refining echocardiographic recognition of amyloid cardiomyopathy.

Progress in cardiovascular diseases
2026

Frontline Dara-CyBorD for AL amyloidosis: high response rates and cytogenetic insights from a real-world cohort.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2026

Pulmonary Amyloidosis as a Differential Diagnosis in Interstitial Lung Diseases.

Open respiratory archives
2025

Real-World Data of Light Chain (AL) Amyloidosis: Prognostic Indices and Treatment Patterns.

Biomedicines
2025

A Triad of Telltale Clues: Macroglossia Raccoon Eye and Nerve Compression Unveil Amyloid Light Chain Amyloidosis.

The Journal of the Association of Physicians of India
2025

Rethinking response assessment in AL amyloidosis: the role of kidney function and absolute light chain levels.

Leukemia &amp; lymphoma
2025

Polymorphic IGLV6-57 AL amyloid fibrils and features of a shared folding pathway.

bioRxiv : the preprint server for biology
2025

The impact of growth factor utilization on infection risk in patients receiving bispecific monoclonal antibodies.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2025

Single-slide detection and typing of AL renal amyloidosis: combining mass spectrometry imaging and digital pathology.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2026

Optimized methods for efficient application of immunogold electron microscopy to amyloid fibrils typing.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2025

Isatuximab: surface strike, deep response in AL amyloidosis.

Blood
2025

Isatuximab for relapsed AL amyloidosis.

Blood
2025

Amyloid Deposits in a Bone Marrow Biopsy Alongside a Presumed Causative Clone.

EJHaem
2025

Development of an artificial intelligence-based early diagnostic system for light-chain amyloidosis.

Annals of hematology
2026

The Real-World Safety and Efficacy of Bispecific T-Cell Engager Therapy in Systemic AL Amyloidosis.

American journal of hematology
2025

The Association of Kidney Function on Survival in Patients with AL Amyloidosis after Autologous Stem Cell Transplantation: A Multicenter Study.

Kidney360
2025

Cardiac Amyloidosis in the Real World: Clinical Presentations, Disease Overlap, and Therapeutic Imperatives.

Reviews in cardiovascular medicine
2025

Efficacy of venetoclax in the treatment of relapsed/refractory light-chain amyloidosis.

Annals of hematology
2025

Equivocal vs Positive Technetium-99m-Pyrophosphate Scintigraphy for Transthyretin Amyloid Cardiomyopathy: Comparing Outcomes, Demographics, and Imaging.

CJC open
2025

Twin Diseases in Different Organs: A Cautionary Tale of Anchoring on a Positive Scan.

Circulation
2025

Impact of early minimal residual disease assessment on the outcomes of patients with systemic light chain amyloidosis.

Annals of medicine
2026

Novel noninvasive parameters for diagnosis of liver involvement in patients with systemic AL amyloidosis.

International journal of hematology
2026

Cold pressor test and paradoxical blood pressure reduction in light chain amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2025

Decoding the human tongue of light chain amyloidosis in three dimensions (3D): three-dimensional pathological visualization drives early and precise screening of suspected cases.

BMC oral health
2025

Wild-Type Transthyretin Amyloid Cardiomyopathy With Bone Marrow Involvement: Clinical Implications of Less Common Sites of Amyloid Deposition.

Cureus
2025

Cutaneous light chain amyloidosis and erythema elevatum diutinum as the presenting features of IgA monoclonal gammopathy: a rare case report and comprehensive literature review.

Annals of hematology
2025

Amyloid and Light Chain Deposition Disorders.

Clinics in chest medicine
2025

[A rare cause of hoarseness-a case study and compact overview of laryngeal amyloidosis].

HNO
2025

BCMA: BeCoMing a new hope for AL amyloidosis.

Blood
2025

First case report of talquetamab use in AL amyloidosis.

Leukemia &amp; lymphoma
2025

Serum and Tissue Light-Chains as Disease Biomarkers in AL Amyloidosis.

International journal of molecular sciences
2026

AL amyloidosis: a real-world experience with CAR T-cell therapy.

Blood advances
2026

Profound dFLC decrease after one cycle predicts superior outcome in patients with AL amyloidosis.

Leukemia &amp; lymphoma
2025

Primary Amyloidosis Unmasked by Gastric Biopsy: A Case Report.

Clinical medicine insights. Case reports
2025

Assessment of Treatment Response: Expanding the Applications of 18F-Florbetapir PET Imaging in Light-Chain Cardiac Amyloidosis Beyond Diagnosis and Outcome Prediction.

JACC. Cardiovascular imaging
2025

Performance of Large Language Models in Diagnosing Rare Hematologic Diseases and the Impact of Their Diagnostic Outputs on Physicians: Combined Retrospective and Prospective Study.

Journal of medical Internet research
2025

Urinary Stricture due to Localized Urethral AL Amyloidosis: A Case Report and Literature Review.

Case reports in oncology
2025

Dimer Dissociation and Aggregation Hot-spot Exposure Synergistically Accelerate Light Chain Variable Domain Aggregation Associated With AL Amyloidosis.

Journal of molecular biology
2025

Monoclonal Gammopathy of Clinical Significance-Associated Glycogen Storage Myopathy: A Novel Acquired Muscle Disease.

Cureus
2025

Multisystem Light Chain Amyloidosis: Diagnostic and Therapeutic Challenges.

Cureus
2025

Cardiac AL amyloidosis in a veteran endurance athlete with pre-existing apical hypertrophic cardiomyopathy: a case report.

European heart journal. Case reports
2025

Diagnostic Dilemmas in Cardiac Transthyretin Amyloidosis With Coexistent Low-Grade B-Cell Lymphoma: A Case Report.

Cureus
2025

Evaluation of Cytokine Levels in Cardiac Transthyretin and Immunoglobulin Light Chain Amyloidosis and Their Correlation with Myocardial Inflammatory Cells and MACE.

Biomedicines
2026

Diet-related poor nutritional status as a major challenge in the treatment of patients with amyloidosis: A systematic review.

Nutrition (Burbank, Los Angeles County, Calif.)
2025

Bleeding Patterns and Clinical Outcomes in Patients With Systemic AL Amyloidosis-Related Acquired Factor X Deficiency.

American journal of hematology
2025

Myocardial deformation imaging to monitor treatment response in AL amyloidosis: is it worth the strain?

European heart journal open
2025

Improvement in global longitudinal strain following plasma cell-directed therapy is associated with long-term survival among patients with AL amyloidosis.

European heart journal open
2025

Molecular Expression Differences in Specific Blood Mononuclear Cell-Types Identify Patients With AL Amyloidosis.

Journal of cellular and molecular medicine
2025

Unmasking amyloid light-chain amyloidosis through biochemical lens: diagnostic utility of urine immunofixation in serum-negative cases.

Diagnosis (Berlin, Germany)
2025

Dangerous clones with complex ties to AL amyloidosis.

Blood
2025

Simultaneous onset of systemic sclerosis and light chain amyloidosis: the first report of a case report and review of the literature.

Rheumatology international
2026

Echocardiographic AMYLI score in systemic light-chain amyloidosis: Clinical relevance and risk stratification.

International journal of cardiology
2025

Diagnostic Performance of the New Free Light Chain Ratio in Systemic Amyloidosis.

JACC. CardioOncology
2025

Changes in Myocardial Light Chain Amyloid Burden After Plasma Cell Therapy.

JACC. Cardiovascular imaging
2025

Isatuximab for relapsed and/or refractory AL amyloidosis: results of a prospective phase 2 trial (SWOG S1702).

Blood
2025

Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies.

Neurology
2026

A tale of two tracers - amyloid imaging with investigational radiotracers iodine (124I) evuzamitide and 99mTc-p5+14 (AT-05).

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
2025

Concurrent TTR and AL Amyloidosis: Diagnostic Challenges and Clinical Implications.

JACC. Case reports
2025

Cardiac light chain amyloidosis secondary to Waldenström's macroglobulinemia: A case report and review.

Experimental and therapeutic medicine
2025

Comparable peri-transplant mortality and incidence of febrile neutropenia after high-dose melphalan and autologous stem cell transplantation in patients with plasma cell dyscrasias treated as outpatient versus inpatient.

British journal of haematology
2025

Case report of isolated aortic valve AL-amyloidosis following aortic valve replacement.

European heart journal. Case reports
2025

Predicting prognosis of light-chain cardiac amyloidosis by magnetic resonance imaging and deep learning.

European heart journal. Cardiovascular Imaging
2025

The Conformational Landscape of AlphaFold2-Predicted Amyloidogenic Light Chains and Their Correlation With VL Domain Mutations and Aggregation Propensity.

Journal of molecular recognition : JMR
2025

In vitro and in vivo disease models of cardiac amyloidosis: progress, pitfalls, and potential.

Cardiovascular research
2025

[Clinical characteristics analysis of patients with IgD type systemic light chain amyloidosis].

Zhonghua yi xue za zhi
2025

Rapidly progressive fatal hepatic failure due to IgM-related AL amyloidosis in Waldenström's macroglobulinemia: an autopsy case report.

Journal of clinical and experimental hematopathology : JCEH
2025

BCMA CAR-T: From Multiple Myeloma to Light-Chain Amyloidosis.

Current oncology (Toronto, Ont.)
2025

Clone-specific residue changes at multiple positions are associated with amyloid formation by antibody light chains.

Frontiers in immunology
2025

Advances in imaging-based diagnosis, prognosis, and response assessment in cardiac amyloidosis: a comprehensive multimodality review.

Annals of nuclear medicine
2025

Wild-type transthyretin cardiac amyloidosis: a case of multisystemic involvement and review of literature.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2025

A rare presentation of extramedullary multiple myeloma as a large gluteal soft tissue mass: A case report.

International journal of surgery case reports
2025

Beyond the Usual Suspects: Clinical and Pathological Insights From a Rare Case of Light Chain (AL) Amyloidosis in a Filipino Patient.

Cureus
2025

Unexplained cardiac hypertrophy as a clue to plasma cell tumour: a case study.

American journal of translational research
2025

Localized Nodular Amyloidosis of the Buccal Mucosa Associated with Sjögren's Syndrome: A Case Report and Literature Review.

Yonago acta medica
2025

Concurrent Immunoglobulin Light Chain and Transthyretin Cardiac Amyloidosis Patient Treated With Daratumumab and Tafamidis: A Case Report.

EJHaem
2025

Therapeutic role of venous leg compression in worsening heart failure with predominant extravascular congestion: a case report.

European heart journal. Case reports
2025

Ultrasonographic Features of Amyloid Arthropathy in Light Chain Amyloidosis: A Case Report.

Current rheumatology reviews
2025

Prognostic value of right ventricular longitudinal strain assessed by multimodal imaging in amyloidosis: systematic review and meta-analysis.

European heart journal. Cardiovascular Imaging
2025

Impact of autonomic dysfunction in light chain amyloidosis patient with nephrotic syndrome and cardiac involvement.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
2025

Charting the future of AL amyloidosis: Diagnostic advancements, prognostic insights, and therapeutic challenges.

European journal of internal medicine
2025

Spectrum of renal diseases caused by monoclonal immunoglobulin: experience from an Australian tertiary referral centre over a 10-year period.

Pathology
2025

Wild-type Cardiac Amyloidosis due to Transthyretin Protein - A Review.

Journal of community hospital internal medicine perspectives
2025

Management recommendations for kidney transplantation in patients with plasma cell dyscrasia.

Kidney international
2025

Escherichia coli Cellulitis in a Patient With Waldenström Macroglobulinaemia: A Case Report.

Cureus
2026

Bispecific T-cell engagers for relapsed/refractory multiple myeloma after solid organ transplantation: A case series.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research
2025

How to perform and interpret cardiac amyloidosis radionuclide imaging (CARI).

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
2025

Safety and efficacy of elranatamab in patients with relapsed and/or refractory immunoglobulin light-chain amyloidosis.

Blood
2025

Modeling immunoglobulin light chain amyloidosis in Caenorhabditis elegans.

Disease models &amp; mechanisms
2025

Usefulness of STREI: A new index of right heart function in patients with immunoglobulin light chain cardiac amyloidosis.

International journal of cardiology
2025

Rapid identification of daratumumab interference with M-protein detection using MALDI-TOF mass spectrometry: a case study involving renal light chain amyloidosis.

Practical laboratory medicine
2025

Current risk stratification and staging of multiple myeloma and related clonal plasma cell disorders.

Leukemia
2025

Accurate MS-Based Diagnostic Amyloid Typing Using Endogenously Normalized Protein Intensities in Formalin-Fixed Paraffin-Embedded Tissue.

Molecular &amp; cellular proteomics : MCP
2025

Long-term outcomes of light chain amyloidosis patients receiving heart transplant: A single-center experience.

JHLT open
2025

Long-term follow-up of patients with AL amyloidosis treated on a phase 1 trial of CAEL-101.

Blood advances
2025

Atypical Presentation of Systemic Amyloid Light Chain (AL) Amyloidosis.

Cureus
2025

Recent developments in systemic light-chain amyloidosis prognosis and treatment.

Future cardiology
Ver todos os 1.519 no EuropePMC

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Blood phosphorylated tau elevation as a biomarker in immunoglobulin light chain and transthyretin amyloidosis.
    Nature medicine· 2026· PMID 41814005mais citado
  2. Prognostic Factors and Progression Biomarkers in AL Amyloidosis: Mapping Current Knowledge and Critical Gaps.
    Blood· 2026· PMID 41779722mais citado
  3. Cryo-EM structures of light chain fibrils from abdominal fat biopsies of multiple myeloma patients.
    Nature communications· 2026· PMID 41735309mais citado
  4. Invasive pressure-volume loop and PET-MR phenotyping in transthyretin cardiac amyloidosis: a multimodal imaging case report.
    European heart journal. Case reports· 2026· PMID 41728244mais citado
  5. Pleural amyloidosis: timely unmasking of apple-green birefringence in pleural biopsy.
    BMJ case reports· 2026· PMID 41638766mais citado
  6. Risk of AL Amyloidosis is Associated with Degree of Free Light Chain Elevation and Duration of Exposure.
    Res Sq· 2026· PMID 41994108recente
  7. Diagnostic Utility of Immunofixation and Free Light Chain Assay in AL Amyloidosis: A Systematic Review and Meta-analysis.
    Blood Adv· 2026· PMID 41979328recente
  8. Tailoring heart failure management in cardiac amyloidosis.
    Heart Fail Rev· 2026· PMID 41957254recente
  9. Determinants of Gastrointestinal Disease Burden and Survival in Systemic AL Amyloidosis.
    Blood Adv· 2026· PMID 41954624recente
  10. Rare dual-clone phenomenon: concurrent λ AL amyloidosis and κ-restricted Bcell lymphoproliferative disorders.
    Haematologica· 2026· PMID 41952623recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:85443(Orphanet)
  2. MONDO:0019438(MONDO)
  3. GARD:5797(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q4652470(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Amiloidose AL
Compêndio · Raras BR

Amiloidose AL

ORPHA:85443 · MONDO:0019438
🇧🇷 Brasil SUS
CEAF
1ATafamidis
Geral
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
E85.4 · Amiloidose limitada a órgãos
CID-11
Ensaios
41 ativos
Medicamentos
10 registrados
Início
Adult
Prevalência
6.459 (Germany)
MedGen
UMLS
C0268381
EuropePMC
Wikidata
Papers 10a
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