Distúrbio caracterizado pelo acúmulo localizado ou difuso de proteína amilóide em vários locais anatômicos. Pode ser primária, devido a proliferações clonais de células plasmáticas; secundário, devido a infecções de longa duração, doenças inflamatórias crônicas ou malignidades; ou familiar. Pode afetar os nervos, pele, língua, articulações, coração, fígado, baço, rins e glândulas supra-renais.
Introdução
O que você precisa saber de cara
A amiloidose cutânea localizada primária (PLCA) é uma condição na qual aglomerados de proteínas anormais chamadas amiloides se acumulam na pele, especificamente nas projeções em forma de onda (papilas dérmicas) entre as duas camadas superiores da pele (a derme e a epiderme). A característica principal da PLCA são manchas na pele com textura ou cor anormais. A aparência dessas manchas define três formas da condição: amiloidose líquen, amiloidose macular e amiloidose nodular.
A amiloidose líquen é caracterizada por manchas extremamente pruriginosas de pele espessada com múltiplos pequenos nódulos. As manchas são escamosas e de cor marrom‑avermelhada. Essas manchas geralmente ocorrem nas canelas, mas também podem aparecer nos antebraços, em outras partes das pernas e em outras áreas do corpo.
Na amiloidose macular, as manchas são planas e de cor marrom escura. A pigmentação pode apresentar um aspecto rendado (reticulado) ou ondulado, embora frequentemente seja uniforme. As manchas de amiloidose macular são mais comumente encontradas na parte superior das costas, mas também podem ocorrer em outras partes do tronco ou nos membros. Essas manchas são levemente pruriginosas.
A amiloidose nodular é caracterizada por nódulos firmes e elevados que são rosados, vermelhos ou marrons. Esses nódulos frequentemente ocorrem no rosto, tronco, membros ou genitais e geralmente não são pruriginosos.
Em algumas pessoas com a condição, as manchas apresentam características tanto da amiloidose líquen quanto da amiloidose macular. Esses casos são chamados de amiloidose bifásica.
Em todas as formas de PLCA, as manchas cutâneas anormais geralmente surgem na meia‑idade adulta. Elas podem permanecer por meses a anos e podem recidivar após desaparecer, seja no mesmo local ou em outro lugar. Muito raramente, a amiloidose nodular progride para uma condição potencialmente fatal chamada amiloidose sistêmica, na qual os depósitos de amiloide se acumulam em tecidos e órgãos por todo o corpo.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoDistúrbio caracterizado pelo acúmulo localizado ou difuso de proteína amilóide em vários locais anatômicos. Pode ser primária, devido a proliferações clonais de células plasmáticas; secundário, devido a infecções de longa duração, doenças inflamatórias crônicas ou malignidades; ou familiar. Pode afetar os nervos, pele, língua, articulações, coração, fígado, baço, rins e glândulas supra-renais.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 117 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 334 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
14 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisCerebral amyloid angiopathy, CST3-related
An autosomal dominant disorder characterized by cystatin C amyloid accumulation in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in intracranial hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.
Amyloidosis, hereditary systemic 4, Finnish type
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD4 is due to gelsolin amyloid deposition and is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. AMYLD4 is usually inherited in an autosomal dominant pattern. However, homozygotes with a more severe phenotype have also been reported.
Immunodeficiency 43
A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.
Congenital afibrinogenemia
Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.
Amyloidosis, primary localized cutaneous, 2
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
Amyloidosis, hereditary systemic 5
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant.
Cerebral amyloid angiopathy, ITM2B-related 1
A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity.
Amyloidosis, hereditary systemic 1
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD1 is an autosomal dominant form due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.
Alzheimer disease 1
A form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy.
Hypoalphalipoproteinemia, primary, 2
An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk.
Amyloidosis, primary localized cutaneous, 1
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
112 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 937 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
69 vias biológicas associadas aos genes desta condição.
Diagnóstico
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Fluid Biomarkers of Motor and Non-Motor Experiences of Daily Living in Dementia with Lewy Bodies and Alzheimer's Disease.
Associations of cerebrospinal fluid biomarkers with sleep, functionality and the MDS-UPDRS in dementia with Lewy bodies (DLB) and late-onset Alzheimer's disease (AD) help elucidate their pathophysiological underpinnings. Consecutive outpatients with DLB and AD were matched by sex, cognitive scores and dementia stage, along with cognitively healthy controls matched by age and sex to investigate associations of cerebrospinal fluid amyloid-β (Aβ42,Aβ40,Aβ38), tau, phospho-tauThr181, ubiquitin, α-synuclein and neurofilament light (NfL) with sleep duration, Schwab & England scale and MDS-UPDRS, adjusted for sex, age and APOE-ϵ4 alleles. Patients with DLB (APOE-ϵ4+:n=11, 76.64±9.0years; APOE-ϵ4-:n=16, 79.75±9.0years) were paired with patients with AD (APOE-ϵ4+:n=12, 80.17±5.7years; APOE-ϵ4-:n=15, 81.67±5.9years) and controls (APOE-ϵ4+:n=4, 82.00±6.4years; APOE-ϵ4-:n=23, 77.87±9.0years); two-thirds were women. APOE-ϵ4 carriers with dementia had more amyloidosis, higher phospho-tauThr181/Aβ42 and α-synuclein/Aβ42. In DLB, APOE-ϵ4 non-carriers had lower Schwab & England scores and higher MDS-UPDRS-I&II scores, lower tau/phospho-tauThr181 and higher ubiquitin and NfL than APOE-ϵ4 carriers. In controls, APOE-ϵ4 non-carriers had lower Aβ42 and Aβ42/Aβ38, higher phospho-tauThr181/Aβ42 and α-synuclein/Aβ42 than APOE-ϵ4 carriers. In DLB, sleep duration was associated with Aβ38 and α-synuclein and inversely associated with tau/phospho-tauThr181 and tau/ubiquitin; Schwab & England scores were associated with tau/ubiquitin and inversely associated with tau/phospho-tauThr181; MDS-UPDRS-I&II was associated with Aβ42/Aβ38; MDS-UPDRS-III was associated with tau/phospho-tauThr181; MDS-UPDRS-V ON was associated with Aβ42 and Aβ42/Aβ40, and MDS-UPDRS-V OFF was associated with Aβ42, Aβ42/Aβ40 and Aβ42/Aβ38. In AD, MDS-UPDRS-III was associated with ubiquitin. Biomarker ratios were superior to isolated biomarkers in associations with motor and non-motor experiences in DLB, though not so prominently in AD due to less motor impairment.
Early-onset axonal pathology and β-amyloidosis in human brains with hematological malignances and cardiovascular diseases.
β-Amyloid (Aβ) and tau pathologies are hallmark lesions of Alzheimer's disease (AD) and they develop in human brain following differential spatiotemporal trajectories. Accordingly, young/adult-onset tau-independent β-amyloidosis is rare. We encountered four such cases among 397 banked brains, with the donors died of hematological malignances (blood cancers) or cardiovascular diseases. To explore the pathological implication, we examined 17 brains (10-87 year-old, y) from blood cancer patients and three (52-82 y) with cardiovascular diseases, focusing on vascular injury, axonal pathology and Aβ formation. Aβ plaques occurred in two adult brains (31 y, 63 y) with blood cancers and two (52 y, 65 y) with cardiovascular diseases in the absence of tau pathology. In the blood cancer brains, 17/17 had vascular injuries seen in hematoxylin-eosin stained sections, 13/17 had iron leakage, and 13/17 had axonal pathology. Malignant cell infiltration was found in 5/14 brains with myeloid, lymphocytic and lymphoma malignances, with light chain infiltration in 3/3 brains with multiple myeloma. In the cardiovascular disease brains, Aβ deposition primarily as diffuse plaques occurred in the cerebral cortex, with vascular and axonal pathologies in the white matter, striatum and internal capsule. Using a multi-labeling approach, the injury/stress induced axonal pathology was associated with β-amyloid processor protein and β-secretase 1 upregulation, but not with intra-axonal amyloid tracer staining. The current findings suggest that hematological malignances and cardiovascular diseases are risk conditions for early-onset cerebral axonal pathology and β-amyloidosis, potentially attributable to vascular injury.
Impact of age on outcomes after CD19 CAR T-cell therapy for large B-cell lymphomas.
Age may influence clinical outcomes after CD19-directed chimeric antigen receptor (CAR) T-cell (CAR-T) therapy. Real-world data on the survival and toxicity outcomes of older patients receiving CAR-T therapy are limited. We used data from the Center for International Blood and Marrow Transplant Research for adults with diffuse large B-cell lymphoma who received CAR-T therapy from May 2018 to June 2020. Cumulative incidence and severity of cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) were reported. Efficacy and safety outcomes were assessed using age as a continuous variable and among 4 age groups: 18 to 54, 55 to 64, 65 to 74, and ≥75 years. Nearly half (44%) of 1916 total recipients were aged ≥65 years. Patients received either axicabtagene ciloleucel (75%) or tisagenlecleucel (25%). Overall rates of CRS and ICANS were 75% and 43%, and severe rates of CRS and ICANS were 9% and 21%, respectively. For all patients, 12-month overall survival (OS), progression-free survival (PFS), and relapse rates were 62%, 42%, and 55%, respectively. As a continuous variable, older age did not affect OS, PFS, and CRS; however, the risk of ICANS increased with age (hazard ratio [HR], 1.03; P < .001). At age >64 years, risk for ICANS increases (HR, 1.65;95% confidence interval (CI), 1.33-2.1; P < .001). In a categorical analysis, the 65 to 74-year age group had lower relapse risk (HR, 0.77;95% CI, 0.64-0.93; P = .005) than younger patients. CD19 CAR-T therapy is effective for older adults, and older age does not worsen mortality. Older age is associated with higher ICANS risk and should guide patient selection.
Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.
To identify unique echocardiographic signatures associated with TTR + carrier status preceding onset of cardiac amyloidosis. Carrier status for the most common pathogenic TTR variant in the United States, Val142Ile (V142I), found in 4% of African Americans (AA) and 1% of Hispanic/Latino (H/L) individuals, confers a 40-60% lifetime risk of developing variant transthyretin amyloidosis (ATTRv), including cardiac amyloidosis (CA) and heart failure (HF). Myocardial amyloid deposition is believed to progress over many years. Genomic screening programs and familial cascade genetic testing are increasingly uncovering pre-symptomatic TTR + carriers, yet no guidelines exist to pragmatically risk stratify these individuals for CA. V142I+ carriers (cases) without prior diagnoses of amyloidosis or HF were identified among Bio Me biobank participants with available exome sequencing data linked to electronic health records (EHRs) including at least one available echocardiogram. Controls were biobank participants with normal TTR sequencing who were age-, sex- and ancestry-matched to cases. Speckle-tracking echocardiography (STE) was applied to images and conventional and strain measurements were evaluated by univariate analyses. A random forest model was trained using a minimal redundancy maximal relevance (mRMR, applied to mitigate overfitting) feature set and evaluated by 5-fold cross-validation to minimize optimism bias. Discriminatory performance was assessed using the area under the receiver operating characteristic curve (AUC). 49 TTR + (100% V142I, median age 61 years, 69.4% female) and 45 matched TTR -biobank participants were included in the model development cohort. STE generated approximately 200 features. Univariate analyses revealed no significant differences between carriers and controls on any individual strain or conventional echocardiographic measurements including global longitudinal, right ventricular and left atrial strain. mRMR feature selection resulted in a set of 15 features retained for all downstream modeling, integrating global amyloid signatures, regional inferolateral strain abnormalities, layer-specific deformation, and mechanical timing heterogeneity. Using this feature set, the model achieved good discrimination (AUC=0.76). Feature importance analysis highlighted relative apical sparing, inferolateral strain reduction, and basal-apical timing gradients as key contributors to model performance. External validation (n=115) confirmed good model discrimination (AUC=0.781, 95% CI: 0.688-0.869, sensitivity 0.983). Machine learning applied to routinely acquired echocardiographic data can identify subtle myocardial abnormalities associated with TTR V142I carrier status prior to development of CA. Key model features are physiologically relevant to known echocardiographic characteristics of overt CA. Genotype-guided echocardiographic surveillance may be a scalable strategy for early detection of CA risk.
Iatrogenic Cerebral Amyloid Angiopathy After Cardiac Surgery: Two Case Reports.
To alert on the risk of interhuman transmission of β-amyloid (Aβ) pathology leading to cerebral amyloid angiopathy (CAA) after non-neurosurgical procedures, here cardiovascular procedures, using cadaveric dura mater (DM) patches. We describe 2 patients with a similar medical history of cardiac surgery for transposition of the great vessels and presenting with symptomatic hematomas revealing imaging features of probable CAA according to Boston 2.0 but with early onset. Both patients lacked hereditary causes of CAA. PET amyloid imaging with 18F-flutemetamol evidenced diffuse brain amyloidosis, with abnormal Aβ levels in CSF analysis. We propose a diagnosis of iatrogenic CAA after cardiac surgery using cadaveric DM. These 2 cases add to the growing evidence regarding Aβ transmissibility in humans and remove the confounding factor of neurosurgery. Iatrogenic CAA diagnosis should be considered after exclusion of genetic causes in patients with early-onset clinical and neuroimaging features of CAA. Patient should have evidence of Aβ accumulation in the CNS and a suggestive medical history. Treatments at risk should not be limited to neurosurgery and should namely include cardiovascular procedures with CNS tissues such as cadaveric DM or exposure to cadaveric human growth hormone.
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📚 EuropePMC21.088 artigos no totalmostrando 197
Fluid Biomarkers of Motor and Non-Motor Experiences of Daily Living in Dementia with Lewy Bodies and Alzheimer's Disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesEULAR recommendations for the management of Behçet's syndrome: 2025 update.
Annals of the rheumatic diseasesEarly-onset axonal pathology and β-amyloidosis in human brains with hematological malignances and cardiovascular diseases.
NeuroscienceLeft Bundle Branch Area Pacing versus Right Ventricular Pacing in Cardiac Amyloidosis: the Left-Right CA study, a single center, retrospective comparative non-randomized analysis.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingLocalized amyloidosis following COVID-19 vaccination with possible immune-mediated pathogenesis.
European journal of dermatology : EJDUrological manifestations in familial mediterranean fever excluding renal amyloidosis: a systematic review.
Rheumatology (Oxford, England)Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review.
Arquivos de neuro-psiquiatriaA case of pulmonary mucosa-associated lymphoid tissue lymphoma with plasmacytic differentiation and amyloid deposition: case report and literature review.
Frontiers in oncologyRetinal Vasculopathy in Inflammatory Cerebral Amyloid Angiopathy: A Case Report of Peripheral Marker of Treatment Response.
Case reports in ophthalmologyDevelopment and characterization of chimeric antigen receptor macrophages for amyloid clearance.
Frontiers in immunologyAdvances in the Diagnosis and Disease-Modifying Management of Transthyretin Amyloid Cardiomyopathy: A Narrative Review.
CureusPhysicochemical Stability of Insulin and Analogues in Saline Infusion: Screening for Amyloid and Amorphous High-Molecular-Weight Material.
ACS omegaImpact of age on outcomes after CD19 CAR T-cell therapy for large B-cell lymphomas.
Blood neoplasiaAutomated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.
medRxiv : the preprint server for health sciences[A case of hereditary transthyretin amyloidosis cardiomyopathy complicated with monoclonal gammopathy of undetermined significance].
Zhonghua xin xue guan bing za zhiProfiling plasma transthyretin in healthy subjects and patients with cardiac ATTR amyloidosis by native electrophoresis.
Clinica chimica acta; international journal of clinical chemistryComprehensive single-cell transcriptomic atlas of microglia in Alzheimer's disease mouse models.
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Kidney internationalAA amyloidosis in inflammatory joint diseases in the era of biological therapies: prevalence, manifestations, management and evolution.
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American journal of hematologyCharacteristics 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 ResonanceLocalized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.
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JAAD case reportsAtrial Cardiomyopathy and Atrial Fibrillation in Different Heart Failure Substrates.
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NeurologyDirect comparison uptake patterns of 99mTc-PYP and 99mTc-HMDP scintigraphy in cardiac amyloidosis with semi-quantitative analysis.
Japanese journal of radiologyLong-Term Outcomes in Patients with Renal Systemic Light Chain Amyloidosis.
Kidney diseases (Basel, Switzerland)Low burden transthyretin cardiac amyloidosis on cardiac magnetic resonance: comprehensive phenotyping and distinction from hypertrophic phenocopies.
European heart journal. Imaging methods and practiceIdentification of Acoramidis as a Repurposed Inhibitor of the DNA Sanitization Enzyme MutT Homologue 1.
ACS pharmacology & translational scienceMultiple Red Flags of Transthyretin Amyloid Cardiomyopathy in a Single Patient: A Case Report on Diagnostic Challenge.
International medical case reports journalCross-shaped nanoporous poly(methyl methacrylate) fibers for selective adsorption of β2-microglobulin and other middle-molecular-weight proteins.
The International journal of artificial organsDaratumumab 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 haematologyA Single-Kindred Cluster of Val122Ile Transthyretin Amyloid Cardiomyopathy: Subclinical Case Series of Three Japanese Patients.
Internal medicine (Tokyo, Japan)Monoclonal Gammopathies of Thrombotic and Hemorrhagic Significance: Mapping into a classification schema.
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CureusIL-1β neutralization ameliorates cognitive deficits and tau pathology in a mouse model of Alzheimer's disease with hyperhomocysteinemia.
Experimental neurologyQuantitative enrichment of amyloid precursors refines mass spectrometry-based amyloidosis diagnosis.
Clinical proteomicsIncreased risk of cardiovascular diseases among patients with carpal tunnel syndrome in a multicenter global retrospective cohort study.
Scientific reportsβ2-microglobulin amyloid deposition and the RAGE-related inflammation pathway in ligamentum flavum thickening among patients undergoing hemodialysis: a comparative cross-sectional study from Japan.
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Clinical and experimental rheumatologyCardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake.
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American family physicianCardiovascular Adverse Events Associated With Bispecific T-Cell Engager Therapy.
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JACC. Clinical electrophysiologySerum peripherin as a disease biomarker in hereditary transthyretin amyloidosis: a multicenter cohort study.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisZanubrutinib in AL Amyloidosis Associated With Waldenström Macroglobulinemia and Other B-Cell Non-Hodgkin Lymphoma.
American journal of hematologyDiffuse Cutaneous Systemic Sclerosis Complicated by Serum Amyloid A Protein Cardiac Amyloidosis and Cardiogenic Shock.
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Clinical hematology internationalNodular Pulmonary Amyloidosis Associated With Sjögren's Syndrome.
Cureus[A case of gelsolin amyloidosis presenting as nephrotic syndrome].
Zhonghua nei ke za zhiRepetitive Mild Traumatic Brain Injury Causes Neuronal Damage in the APP/PS1 Mouse Model of Alzheimer's Disease Without an Enduring Impact on Amyloid Pathology, Sleep, or Epileptiform Activity.
Journal of neurotraumaAddition of high-sensitivity troponin to the T-Amylo score for the diagnosis of transthyretin cardiac amyloidosis in acute heart failure: TnT-Amylo.
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Current opinion in structural biologyInvestigating transthyretin variants H88R and I107V in amyloid priming: From destabilization to complete dissociation.
The FEBS journalAdvancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.
Current cardiology reviewsLack of Oxygen and/or Glucose Differentially Potentiates Aβ40e22q- and Aβ42-Induced Cerebral Endothelial Cell Death, Barrier Dysfunction and Angiogenesis Impairment.
CellsCardiovascular Prognosis in Stable Patients with Cardiac Amyloidosis: A Novel and Simple Risk Score.
Journal of clinical medicineHereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.
Journal of clinical medicineExploratory Evaluation of the Predictive Value of Serum Neurofilament Light Chain for Autonomic Neuropathy in Hereditary Transthyretin Amyloidosis.
Journal of clinical medicineDiagnostic Performance of Relative Apical Sparing Across Cardiac Diseases: A Multimodality Systematic Review and Meta-Analysis.
Journal of clinical medicineCardiac amyloidosis across the spectrum of left ventricular function: multimodal functional and prognostic insights.
Heart (British Cardiac Society)Hybrid [15O]H2O PET/CTA Imaging Uncovers Microvascular Dysfunction in Cardiac Amyloidosis.
Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology'Cardiomyopathy mindset' applied to Dynamic Stress Computed Tomography Perfusion: Cardiac Amyloidosis behind myocardial perfusion defects.
European heart journal. Cardiovascular ImagingApolipoprotein A-IV Cardiac Amyloidosis Diagnosed by Mass Spectrometry-Based Proteomic Analysis.
JACC. Case reportsEndomyocardial Biopsy Revisited: Diagnostic Value and Expanding Roles in Cardiac Amyloidosis.
Current heart failure reportsRole of Endomyocardial Biopsy and Bachmann's Bundle Pacing for Sinus Node Dysfunction in Cardiac Amyloidosis.
JACC. Case reportsCase Report: Anti-TNF-α therapy-associated destructive thyroiditis and unmasking of latent amyloid A amyloidosis in rheumatoid arthritis.
Frontiers in immunologyThe patient's voice: real-world experiences of a transthyretin amyloidosis focus group.
BMC health services researchComprehensive evaluation of hypertrophic cardiomyopathy: European Journal of Heart Failure expert consensus document.
European journal of heart failureXanthelasma-like eyelid plaque secondary to periocular Demodex infestation with granulomatous dermatitis.
Orbit (Amsterdam, Netherlands)Illuminating the Invisible: Translational Molecular Imaging in Cardiovascular Medicine.
Circulation researchThe Unlikely Duo: Tuberculous Lymphadenitis Leading to Secondary Amyloidosis in a Young Patient.
The Journal of the Association of Physicians of IndiaThe cally index as an indicator of inflammatory burden across clinical phases of familial mediterranean fever.
Clinical rheumatologyTalquetamab induces deep responses in heavily pre-treated patients with systemic light-chain amyloidosis.
Annals of hematologyProgress in Ventricular Arrhythmia Risk Stratification in Light Chain Cardiac Amyloidosis.
JACC. Clinical electrophysiologyCanakinumab treatment in patients with colchicine-resistant familial mediterranean fever: a multicenter observational study.
Turkish journal of medical sciencesBlood phosphorylated tau elevation as a biomarker in immunoglobulin light chain and transthyretin amyloidosis.
Nature medicineA 77-Year-Old Woman With a Slowly Enlarging Pulmonary Nodule.
ChestIntense Myocardial Uptake in a Patient with Fabry Disease - a new cause of false positive of Bone Scintigraphy mimicking cardiac amyloidosis.
European heart journal. Cardiovascular ImagingGenetic evidence against clonotypic B-lymphocytes as reservoir of plasma-cell cancers.
Blood cancer discoveryEarly treatment switch in cardiac AL amyloidosis: a case of suboptimal response to first-line Dara-CyBorD regimen followed by switch to teclistamab.
Leukemia & lymphomaCRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
Human gene therapyUtility of Computed Tomography for Screening of Left Atrial Thrombus Before Cardioversion of Atrial Fibrillation in a Patient With Cardiac Amyloidosis.
Circulation reportsEffects of gonadectomy on brain sex hormone levels and amyloid pathology in male and female AppNL-G-F and AppNL-F mice.
Journal of neuroendocrinologyChildhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children.
Pediatric rheumatology online journalProof-of-concept for the application of Raman spectroscopy in differentiating the subtypes of cardiac amyloidosis.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopyPosterior parietal cortex oscillatory activity reflects persistent spatial memory impairments induced by early hippocampal amyloidosis in male mice.
The Journal of physiologyCorrelation of global and regional quantitative 99m Tc-3,3-diphosphono-1,2 propanodicarboxylicacid single-photon emission computed tomography with echocardiography in patients with suspected transthyretin-related cardiomyopathy.
Nuclear medicine communicationsLong-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 journalRight Diaphragmatic Paralysis as Initial Manifestation of AL Amyloidosis.
The American journal of medicinePhase III ATTR-CM Trials: Rethinking the "Placebo" Arm.
CirculationTransthyretin amyloid depletion therapy: lessons from the phase 2 trial of coramitug.
Heart failure reviewsComparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.
European journal of pediatricsClinical 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 AmyloidosisThe theory of hypertensive heart disease and heart failure: revisiting the evidence and pathophysiology.
Journal of hypertensionClinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review.
Frontiers in geneticsQuantitative Analysis of Amyloid Fibril Nucleation by Linking Folding and Nucleation Pathways Using a Robust Ultrasonic Assay.
ACS omegaDiabetes Mellitus Accelerates Alzheimer's Disease Development by Affecting the Gut Microbiome.
BioMed research internationalGiant Cell Arteritis With Medin-Derived Amyloid (AMed) Deposition in a Patient With COVID-19: An Autopsy Case.
Pathology internationalLysozyme encounters transthyretin: rethinking amyloid complexity in ligamentum flavum.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisSelective weakening of population-coupled synaptic activity in vivo in a mouse model of amyloid-beta pathology.
Nature communicationsNon-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 spectroscopyUltrasonication-induced in vitro formation of transthyretin mature amyloid fibrils at neutral pH.
Protein science : a publication of the Protein SocietyPredicting Early Mortality in Newly Diagnosed AL Amyloidosis: Development and Validation of the PACE Score for Daratumumab-Treated Patients.
American journal of hematologySecondary Amyloidosis in Hidradenitis Suppurativa: A Case Series and a Proposal for Practical Screening Recommendations.
International journal of dermatologyObstructive sleep apnea severity, Alzheimer's disease plasma markers, and CSF brain amyloidosis and tau pathology.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationMetabolically Silent Diffuse Hepatic Involvement in Multiple Myeloma: An 18F-FDG-PET/CT Pitfall.
Molecular imaging and radionuclide therapyCoronary Microvascular Dysfunction in Cardiomyopathies: Insights on Clinical and Prognostic Roles.
Reviews in cardiovascular medicineTREM2 and microglial immunity in Alzheimer's disease: mechanisms, genetics, and therapeutic opportunities.
Frontiers in immunologyTherapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin-Mediated Amyloidosis: A Systematic Review.
Health science reportsIntermittent White Urine With Nephrotic-Range Proteinuria and Preserved Renal Function: A Diagnostic Dilemma Between Chyluria, Pseudochyluria, and Amyloidosis.
Cureus[Managing ATTR amyloidosis in general practice].
MMW Fortschritte der MedizinThe short-chain fatty acid butyrate prevents gut-brain amyloid-β pathology and neuroinflammation in an Alzheimer mouse model.
Molecular psychiatryA Case of AL Amyloidosis-Associated Arthritis Initially Misdiagnosed as Rheumatoid Arthritis.
Modern rheumatology case reportsAmyloidosis of the eyelid and conjunctiva.
Archivos de la Sociedad Espanola de OftalmologiaAutomating Chart Review Using an Artificial Intelligence-Enabled System for Assessing Transthyretin Amyloid Cardiomyopathy Trial Eligibility.
Journal of cardiac failureClinical, genetic, and therapeutic differences in pediatric versus adult colchicine-resistant FMF patients.
Pediatrics international : official journal of the Japan Pediatric SocietySystemic fibrinogen Aα-chain amyloidosis in Manchester Terrier dogs.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisGenomic Landscape of TTR Gene Variants Associated with Amyloidosis in Panama: Experience of the National Institute of Medical Genetics and Genomics.
Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheoreseRacial differences in natriuretic peptide levels in wild type transthyretin amyloid cardiomyopathy.
International journal of cardiologyPrognostic Factors and Progression Biomarkers in AL Amyloidosis: Mapping Current Knowledge and Critical Gaps.
BloodSodium-Glucose Cotransporter 2 Inhibitors in Patients with Heart Failure and Transthyretin or Light Chain Amyloidosis: A Real-World Analysis.
Arquivos brasileiros de cardiologiaEfficacy and Safety of Vutrisiran in Patients with Hereditary Transthyretin-mediated Amyloidosis with Polyneuropathy: Analysis of the East Asian Subpopulation from HELIOS-A.
Neurology and therapyPulmonary light chain deposition disease secondary to Sjögren disease: a case report.
Frontiers in immunologyComparative evaluation of free light chain assays in AL amyloidosis: Performance of Sebia versus Freelite and N-Latex.
Practical laboratory medicineCurrent Standards and Perspectives in Proteomics for Cardiac Amyloidosis.
Analytical chemistryAtrial cardiomyopathy in cardiac amyloidosis: clinical imaging and manifestations.
NPJ cardiovascular healthIsolated medial temporal lobe amnesia (MTLA): Predictor of cerebral amyloidosis or marker of phenotype-specific vulnerability?
Revue neurologiqueEnhanced antitumoral activity of the academic CAR-T ARI0002h against normal and low BCMA-expressing myeloma cells after incorporating a transmembrane CD28 domain.
Journal for immunotherapy of cancerPublisher Correction: QTc interval prolongation as a marker of disease stage in transthyretin cardiac amyloidosis.
Clinical research in cardiology : official journal of the German Cardiac SocietyEarly cardiac sympathetic denervation in hereditary transthyretin amyloidosis: 123I-metaiodobenzylguanidine findings and correlation with skin biopsy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisDisseminated superficial porokeratosis with dermal amyloid deposits: A case report and review of the literature.
The Journal of international medical researchBilateral Amyloid Arthropathy of the Hip Joint Presented with Pathologic Fracture in a Hemodialysis Patient: A Case Report.
Hip & pelvisA tale of two tracers-does one outperform the other?
Journal of nuclear cardiology : official publication of the American Society of Nuclear CardiologyCorrespondence on 'EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update' by Ozen et al.
Annals of the rheumatic diseasesImpact of acoramidis on clinical stability in transthyretin amyloid cardiomyopathy: Observations from ATTRibute-CM.
European journal of heart failureContemporary heart failure evidence in 2025: a joint summary of key trials from the European Journal of Heart Failure and ESC Heart Failure Journal.
European journal of heart failurePossible ways of building trial-level evidence for heart failure therapies in cardiac amyloidosis.
European journal of heart failure[Update on hypertrophic cardiomyopathy].
Innere Medizin (Heidelberg, Germany)Quantitative diagnosis of amyloid without Congo red staining using polarized light microscopy.
Biomedical optics expressCase 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 immunologyConcomitant Cardiac Transthyretin Amyloidosis and Coronary Artery Disease---Imaging Features and Pitfalls.
CJC openCardiac Resynchronization Therapy Associated With Improved Survival in Advanced Transthyretin Cardiac Amyloidosis Despite Higher Disease Severity.
The American journal of cardiologyAttruby for the treatment of transthyretin amyloid cardiomyopathy (ATTR-CM).
Trends in pharmacological sciencesAutonomic dysfunction in patients with wild-type transthyretin amyloidosis.
Journal of neurologyLimited Accuracy of Noninvasive Tests in Posttransplant Liver Fibrosis Assessment.
Archives of pathology & laboratory medicineLeft Atrial Appendage Occlusion in Atrial Fibrillation With Structural Heart Disease: Progress, Promise, and Gaps.
JACC. Clinical electrophysiologyIncidence and Predictors of Appropriate Implantable Cardioverter-Defibrillator Therapy in Light Chain Cardiac Amyloidosis.
JACC. Clinical electrophysiologyNegative [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 reportsAssessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.
Journal of clinical medicineAL Amyloidosis Patients Continue to Benefit from HDCT/ASCT Consolidation in the Daratumumab Era.
Journal of clinical medicineLongitudinal Displacement vs. Strain in Cardiac Amyloidosis: A Speckle Tracking Echocardiography Study.
Journal of clinical medicineEmerging Pharmacological Strategies for Cardiac Amyloidosis: A Qualitative Analysis of Interventional Clinical Trials Registered on ClinicalTrials.Gov.
Journal of clinical medicineAssociation Between Common Variable Immunodeficiency and Pulmonary Amyloidosis: Review.
Journal of clinical medicineLeft Atrial Strain Correlation with Functional Capacity and Additional Prognostic Value of Speckle Tracking in Cardiac Amyloidosis: A Prospective, Single-Center Study.
Journal of clinical medicineThe 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)Echocardiographic Red Flags in Wild-Type Transthyretin Amyloidosis: Sex-Specific Gaps for Wall Thickness and Left Ventricular Mass.
Life (Basel, Switzerland)Aortic Valve Annular Properties in Cardiac Amyloidosis-Insights from the Three-Dimensional Speckle Tracking Echocardiographic MAGYAR-Path Study.
BiomedicinesBody-Wide Glycolytic Shift, Oxidative Stress, and Sex-Specific Effect of Caloric Restriction in a Mouse Model of Alzheimer's Disease.
Antioxidants (Basel, Switzerland)Rapamycin Reduces Amyloid-β Plaques and Improves Behavioral Performance in a Sex-Dependent Manner in Mouse Models of Amyloidosis.
CNS neuroscience & therapeuticsConcurrence of renal amyloidosis and membranous nephropathy: a case series and literature review.
BMC nephrologyTrends in cardiac amyloidosis hospital admissions and associated mortality risk over 20 years: a population-based study using healthcare administrative databases.
European journal of internal medicineParametric Cardiac Imaging with 18F-Flutemetamol PET to Evaluate the Impact of Tafamidis in Patients with Transthyretin Cardiac Amyloidosis.
Journal of nuclear medicine : official publication, Society of Nuclear MedicinePrognostic value of left atrial function in cardiac amyloidosis: a systematic review and meta‑analysis.
The international journal of cardiovascular imagingEndothelial PAI-1 Drives Lead-Induced Cerebral Amyloid Angiopathy via Activation of C3+ Decorin+ A1-like Astrocytes.
BiologyLysozyme as an amyloid fibril protein together with transthyretin in the ligamentum flavum in association with lumbar spinal stenosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisValidity of Amyloidosis in the Danish National Patient Registry.
Clinical epidemiologyAntimicrobial Peptides as Cross-Seeding Modulators at the Neurodegenerative-Infectious Interface.
Research (Washington, D.C.)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 hematologyUtilization and Prognosis of Cardiac Device Implantation in AL Versus ATTR Amyloidosis.
Pacing and clinical electrophysiology : PACE[Hereditary transthyretin amyloidosis presenting as vitreous opacities].
Journal francais d'ophtalmologieMonoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.
Journal of the American Academy of DermatologyNeuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.
Brain, behavior, and immunityInhibition of amyloid formation of keratin-derived peptide by rosmarinic acid.
Bioorganic & medicinal chemistryAbnormal myocardial perfusion reserve and myocardial infarction determine cardiovascular outcomes in type 2 diabetes mellitus.
European heart journal. Cardiovascular ImagingPittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.
Frontiers in nuclear medicineVutrisiran for transthyretin amyloidosis.
Australian prescriberVascular smooth muscle cell loss, but not neuroinflammation, drives cerebrovascular reactivity impairment in Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationAssociações
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A amiloidose ocorre pelo acúmulo de proteínas amiloides nos tecidos. Pode decorrer de proliferações plasmocitárias primárias, inflamações crônicas ou alterações genéticas em genes como TTR, SAA1 e B2M.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Amiloidose. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/amiloidose
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Amiloidose
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- fonte: MeSH (NLM)
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- fonte: FDA OpenFDA
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