Raras
Buscar doenças, sintomas, genes...
Amiloidose
ORPHA:69CID-10 · E85.0CID-11 · 5D00PCDT · SUSDOENÇA RARA

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.

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Introdução

O que você precisa saber de cara

📋

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.

Pesquisas ativas
22 ensaios
1269 total registrados no ClinicalTrials.gov
Publicações científicas
32.650 artigos
Último publicado: 2026 Apr 8

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponível3 medicamentos CEAFCID-10: E85.0
Você se identifica com essa condição?
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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
44 sintomas
🫃
Digestivo
35 sintomas
❤️
Coração
33 sintomas
🫘
Rins
27 sintomas
👁️
Olhos
17 sintomas
🫁
Pulmão
12 sintomas

+ 117 sintomas em outras categorias

Características mais comuns

Ataxia
Dispneia noturna paroxística
Aumento da concentração circulante de NT-proBNP
Sinal de Romberg positivo
Estenose aórtica supravalvar
Má absorção
334sintomas
Sem dados (334)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 334 características clínicas mais associadas, ordenadas por frequência.

Ataxia
Dispneia noturna paroxísticaParoxysmal nocturnal dyspnea
Aumento da concentração circulante de NT-proBNPIncreased circulating NT-proBNP concentration
Sinal de Romberg positivoPositive Romberg sign
Estenose aórtica supravalvarSupravalvular aortic stenosis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico32.650PubMed
Últimos 10 anos200publicações
Pico2026197 papers
Linha do tempo
2026Hoje · 2026🧪 1979Primeiro ensaio clínico
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

Genes associados

14 genes identificados com associação a esta condição.

CST3Cystatin-CDisease-causing germline mutation(s) inTolerante
FUNÇÃO

As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Cerebral 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.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Putamen basal ganglia
653.3 TPM
Brain Caudate basal ganglia
619.9 TPM
Cérebro - Amígdala
598.5 TPM
Córtex cerebral
585.7 TPM
Brain Frontal Cortex BA9
531.0 TPM
OUTRAS DOENÇAS (2)
ACys amyloidosisage related macular degeneration 11
HGNC:2475UniProt:P01034
GSNGelsolinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed (PubMed:19666512). Plays a role in ciliogenesis (PubMed:20393563)

LOCALIZAÇÃO

Cytoplasm, cytoskeletonSecreted

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
2343.5 TPM
Nervo tibial
1919.4 TPM
Artéria tibial
1624.6 TPM
Aorta
1619.7 TPM
Artéria coronária
1564.3 TPM
OUTRAS DOENÇAS (1)
Finnish type amyloidosis
HGNC:4620UniProt:P06396
B2MBeta-2-microglobulinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553)

LOCALIZAÇÃO

SecretedCell surface

VIAS BIOLÓGICAS (2)
Antigen Presentation: Folding, assembly and peptide loading of class I MHCNef mediated downregulation of MHC class I complex cell surface expression
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (4)
hypoproteinemia, hypercatabolicamyloidosis, hereditary systemic 6variant ABeta2M amyloidosisMHC class I deficiency
HGNC:914UniProt:P61769
FGAFibrinogen alpha chainDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using an

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (10)
Paradoxical activation of RAF signaling by kinase inactive BRAFSignaling by moderate kinase activity BRAF mutantsSignaling by high-kinase activity BRAF mutantsSignaling downstream of RAS mutantsMAP2K and MAPK activation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
5497.7 TPM
Estômago
12.4 TPM
Testículo
5.1 TPM
Rim - Medula
2.7 TPM
Rim - Córtex
1.7 TPM
OUTRAS DOENÇAS (6)
familial dysfibrinogenemiafamilial visceral amyloidosiscongenital afibrinogenemiaAFib amyloidosis
HGNC:3661UniProt:P02671
IL31RAInterleukin-31 receptor subunit alphaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15194700, PubMed:15627637). May function in skin immunity (PubMed:15184896). Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor ce

LOCALIZAÇÃO

Cell membranePresynaptic cell membraneCell projection, axon

VIAS BIOLÓGICAS (1)
IL-6-type cytokine receptor ligand interactions
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Aorta
1.9 TPM
Testículo
1.8 TPM
Fibroblastos
0.8 TPM
Skin Sun Exposed Lower leg
0.5 TPM
Skin Not Sun Exposed Suprapubic
0.5 TPM
INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (2)
amyloidosis, primary localized cutaneous, 2familial primary localized cutaneous amyloidosis
HGNC:18969UniProt:Q8NI17
APOA2Apolipoprotein A-IICandidate gene tested inModerado
FUNÇÃO

May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
OUTRAS DOENÇAS (2)
apolipoprotein A-II amyloidosishypercholesterolemia, familial, 1
HGNC:601UniProt:P02652
SAA1Serum amyloid A-1 proteinCandidate gene tested inModerado
FUNÇÃO

Major acute phase protein

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Amyloid fiber formation
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
8842.0 TPM
Glândula salivar
1622.0 TPM
Adipose Visceral Omentum
1116.1 TPM
Mama
933.0 TPM
Tecido adiposo
229.3 TPM
OUTRAS DOENÇAS (1)
AA amyloidosis
HGNC:10513UniProt:P0DJI8
LYZLysozyme CDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Neutrophil degranulation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula salivar
9548.0 TPM
Sangue
1687.4 TPM
Intestino delgado
304.3 TPM
Pulmão
296.5 TPM
Baço
177.4 TPM
OUTRAS DOENÇAS (2)
amyloidosis, hereditary systemic 5ALys amyloidosis
HGNC:6740UniProt:P61626
ITM2BIntegral membrane protein 2BDisease-causing germline mutation(s) inModerado
FUNÇÃO

Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-

LOCALIZAÇÃO

Golgi apparatus membraneCell membraneEndosome membraneSecreted

VIAS BIOLÓGICAS (1)
Amyloid fiber formation
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
241.1 TPM
Sangue
208.7 TPM
Cérebro - Hemisfério cerebelar
204.2 TPM
Cervix Ectocervix
200.0 TPM
Cervix Endocervix
193.0 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (3)
ABri amyloidosisADan amyloidosisretinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
HGNC:6174UniProt:Q9Y287
TTRTransthyretinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain

LOCALIZAÇÃO

SecretedCytoplasm

VIAS BIOLÓGICAS (6)
The canonical retinoid cycle in rods (twilight vision)Retinoid metabolism and transportDefective visual phototransduction due to STRA6 loss of functionNeutrophil degranulationAmyloid fiber formation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
2734.3 TPM
Pâncreas
202.8 TPM
Hipocampo
43.8 TPM
Brain Spinal cord cervical c-1
26.7 TPM
Substância negra
16.7 TPM
OUTRAS DOENÇAS (6)
hyperthyroxinemia, dystransthyretinemiccarpal tunnel syndrome 1amyloidosis, hereditary systemic 1euthyroid dysprealbuminemic hyperthyroxinemia
HGNC:12405UniProt:P02766
APPAmyloid-beta precursor proteinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptos

LOCALIZAÇÃO

Cell membraneMembranePerikaryonCell projection, growth coneMembrane, clathrin-coated pitEarly endosomeCytoplasmic vesicleEndoplasmic reticulumGolgi apparatusSecretedCell surfaceNucleusCytoplasm

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (9)
cerebral amyloid angiopathy, APP-relatedAlzheimer disease type 1ABeta amyloidosis, Italian typeearly-onset autosomal dominant Alzheimer disease
HGNC:620UniProt:P05067
APOA1Apolipoprotein A-IDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (4)
hypoalphalipoproteinemia, primary, 2, intermediateamyloidosis, hereditary systemic 3hypoalphalipoproteinemia, primary, 2AApoAI amyloidosis
HGNC:600UniProt:P02647
OSMROncostatin-M-specific receptor subunit betaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
IL-6-type cytokine receptor ligand interactions
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
117.0 TPM
Adipose Visceral Omentum
72.4 TPM
Pulmão
67.0 TPM
Artéria tibial
57.4 TPM
Aorta
55.9 TPM
OUTRAS DOENÇAS (2)
amyloidosis, primary localized cutaneous, 1familial primary localized cutaneous amyloidosis
HGNC:8507UniProt:Q99650
GPNMBTransmembrane glycoprotein NMBDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Could be a melanogenic enzyme

LOCALIZAÇÃO

Cell membraneMelanosome membraneEarly endosome membrane

VIAS BIOLÓGICAS (1)
PTK6 promotes HIF1A stabilization
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
316.2 TPM
Skin Not Sun Exposed Suprapubic
299.5 TPM
Cervix Endocervix
270.1 TPM
Skin Sun Exposed Lower leg
250.8 TPM
Aorta
177.0 TPM
OUTRAS DOENÇAS (2)
amyloidosis, primary localized cutaneous, 3amyloidosis cutis dyschromia
HGNC:4462UniProt:Q14956

Medicamentos aprovados (FDA)

2 medicamentos encontrados nos registros da FDA americana.

💊 Vyndaqel (TAFAMIDIS MEGLUMINE)
💊 Darzalex Faspro (DARATUMUMAB AND HYALURONIDASE-FIHJ (HUMAN RECOMBINANT))
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

112 variantes patogênicas registradas no ClinVar.

🧬 CST3: CST3, IVS2DS, G-T, +1 ()
🧬 CST3: NC_000020.10:g.16400000_24400000del ()
🧬 CST3: NC_000020.10:g.20158646_24080787del ()
🧬 CST3: GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 ()
🧬 CST3: NM_000099.4(CST3):c.335A>G (p.His112Arg) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 937 variantes classificadas pelo ClinVar.

281
375
281
Patogênica (30.0%)
VUS (40.0%)
Benigna (30.0%)
VARIANTES MAIS SIGNIFICATIVAS
TTR: NM_000371.4(TTR):c.245A>T (p.Glu82Val) [Likely pathogenic]
TTR: NM_000371.4(TTR):c.380T>C (p.Ile127Thr) [Likely pathogenic]
TTR: NM_000371.4(TTR):c.292T>C (p.Tyr98His) [Likely pathogenic]
TTR: NM_000371.4(TTR):c.401A>C (p.Tyr134Ser) [Pathogenic]
TTR: NM_000371.4(TTR):c.262A>C (p.Ile88Leu) [Pathogenic]

Vias biológicas (Reactome)

69 vias biológicas associadas aos genes desta condição.

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Neutrophil degranulation Post-translational protein phosphorylation Amyloid fiber formation Caspase-mediated cleavage of cytoskeletal proteins Sensory processing of sound by outer hair cells of the cochlea ER-Phagosome pathway Endosomal/Vacuolar pathway Nef mediated downregulation of MHC class I complex cell surface expression Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions DAP12 signaling Interferon gamma signaling Modulation by Mtb of host immune system SARS-CoV-2 activates/modulates innate and adaptive immune responses Antigen Presentation: Folding, assembly and peptide loading of class I MHC Platelet degranulation Common Pathway of Fibrin Clot Formation MyD88:MAL(TIRAP) cascade initiated on plasma membrane Integrin cell surface interactions Integrin signaling GRB2:SOS provides linkage to MAPK signaling for Integrins p130Cas linkage to MAPK signaling for integrins MyD88 deficiency (TLR2/4) IRAK4 deficiency (TLR2/4) MAP2K and MAPK activation Regulation of TLR by endogenous ligand Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants IL-6-type cytokine receptor ligand interactions PPARA activates gene expression Chylomicron assembly Chylomicron remodeling Retinoid metabolism and transport Scavenging by Class B Receptors G alpha (q) signalling events G alpha (i) signalling events Formyl peptide receptors bind formyl peptides and many other ligands TAK1-dependent IKK and NF-kappa-B activation Interleukin-4 and Interleukin-13 signaling Advanced glycosylation endproduct receptor signaling TRAF6 mediated NF-kB activation Antimicrobial peptides The canonical retinoid cycle in rods (twilight vision) Non-integrin membrane-ECM interactions Defective visual phototransduction due to STRA6 loss of function ECM proteoglycans Lysosome Vesicle Biogenesis The NLRP3 inflammasome Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Purinergic signaling in leishmaniasis infection Mitochondrial protein degradation ABC transporters in lipid homeostasis Scavenging of heme from plasma Scavenging by Class A Receptors Defective ABCA1 causes TGD HDL assembly HDL clearance HDL remodeling Heme signaling Maturation of DENV proteins Dengue Virus-Host Interactions Dengue virus activates/modulates innate and adaptive immune responses PTK6 promotes HIF1A stabilization

Diagnóstico

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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.
3Fase 34
2Fase 23
1Fase 14
·Pré-clínico9
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
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🇧🇷 Atendimento SUS — Amiloidose

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Publicações mais relevantes

Timeline de publicações
14.814 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 14.814

#1

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 neurologiques2026 Mar 25

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.

#2

Early-onset axonal pathology and β-amyloidosis in human brains with hematological malignances and cardiovascular diseases.

Neuroscience2026 Mar 22

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.

#3

Impact of age on outcomes after CD19 CAR T-cell therapy for large B-cell lymphomas.

Blood neoplasia2026 May

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.

#4

Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.

medRxiv : the preprint server for health sciences2026 Mar 05

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.

#5

Iatrogenic Cerebral Amyloid Angiopathy After Cardiac Surgery: Two Case Reports.

Neurology2026 Apr 14

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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2026

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 neurologiques
2026

EULAR recommendations for the management of Behçet's syndrome: 2025 update.

Annals of the rheumatic diseases
2026

Early-onset axonal pathology and β-amyloidosis in human brains with hematological malignances and cardiovascular diseases.

Neuroscience
2026

Left 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 pacing
2026

Localized amyloidosis following COVID-19 vaccination with possible immune-mediated pathogenesis.

European journal of dermatology : EJD
2026

Urological manifestations in familial mediterranean fever excluding renal amyloidosis: a systematic review.

Rheumatology (Oxford, England)
2026

Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review.

Arquivos de neuro-psiquiatria
2026

A case of pulmonary mucosa-associated lymphoid tissue lymphoma with plasmacytic differentiation and amyloid deposition: case report and literature review.

Frontiers in oncology
2026

Retinal Vasculopathy in Inflammatory Cerebral Amyloid Angiopathy: A Case Report of Peripheral Marker of Treatment Response.

Case reports in ophthalmology
2026

Development and characterization of chimeric antigen receptor macrophages for amyloid clearance.

Frontiers in immunology
2026

Advances in the Diagnosis and Disease-Modifying Management of Transthyretin Amyloid Cardiomyopathy: A Narrative Review.

Cureus
2026

Physicochemical Stability of Insulin and Analogues in Saline Infusion: Screening for Amyloid and Amorphous High-Molecular-Weight Material.

ACS omega
2026

Impact of age on outcomes after CD19 CAR T-cell therapy for large B-cell lymphomas.

Blood neoplasia
2026

Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.

medRxiv : the preprint server for health sciences
2026

[A case of hereditary transthyretin amyloidosis cardiomyopathy complicated with monoclonal gammopathy of undetermined significance].

Zhonghua xin xue guan bing za zhi
2026

Profiling plasma transthyretin in healthy subjects and patients with cardiac ATTR amyloidosis by native electrophoresis.

Clinica chimica acta; international journal of clinical chemistry
2026

Comprehensive single-cell transcriptomic atlas of microglia in Alzheimer's disease mouse models.

Molecular psychiatry
2026

Amyloid light-chain amyloidosis presenting as lambda-restricted tubular amyloid casts.

Kidney international
2026

AA amyloidosis in inflammatory joint diseases in the era of biological therapies: prevalence, manifestations, management and evolution.

Joint bone spine
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

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Daratumumab induced lichenoid drug eruption.

JAAD case reports
2026

Atrial Cardiomyopathy and Atrial Fibrillation in Different Heart Failure Substrates.

Arrhythmia &amp; electrophysiology review
2026

The Underscreening of Cardiac Amyloidosis in Patients With Pacemakers-A Single Centre Retrospective Audit.

Journal of cardiovascular electrophysiology
2026

Minor salivary gland biopsy: A less invasive technique and applications.

Reumatologia clinica
2026

Development and Validation of a Risk Score for Transthyretin Amyloidosis in Patients with Severe Aortic Stenosis Undergoing Transcatheter Aortic Valve Implantation: The GRECA-TAVI Registry.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
2026

Iatrogenic Cerebral Amyloid Angiopathy After Cardiac Surgery: Two Case Reports.

Neurology
2026

Direct comparison uptake patterns of 99mTc-PYP and 99mTc-HMDP scintigraphy in cardiac amyloidosis with semi-quantitative analysis.

Japanese journal of radiology
2026

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

Kidney diseases (Basel, Switzerland)
2026

Low burden transthyretin cardiac amyloidosis on cardiac magnetic resonance: comprehensive phenotyping and distinction from hypertrophic phenocopies.

European heart journal. Imaging methods and practice
2026

Identification of Acoramidis as a Repurposed Inhibitor of the DNA Sanitization Enzyme MutT Homologue 1.

ACS pharmacology &amp; translational science
2026

Multiple Red Flags of Transthyretin Amyloid Cardiomyopathy in a Single Patient: A Case Report on Diagnostic Challenge.

International medical case reports journal
2026

Cross-shaped nanoporous poly(methyl methacrylate) fibers for selective adsorption of β2-microglobulin and other middle-molecular-weight proteins.

The International journal of artificial organs
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

A Single-Kindred Cluster of Val122Ile Transthyretin Amyloid Cardiomyopathy: Subclinical Case Series of Three Japanese Patients.

Internal medicine (Tokyo, Japan)
2026

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

Journal of thrombosis and haemostasis : JTH
2026

Cardiac Amyloidosis and SGLT2 Inhibitors: Signal, Hope, and the Need for Randomized Evidence.

Arquivos brasileiros de cardiologia
2026

Cardioembolic Stroke in ATTR Amyloidosis: What's Rhythm Got to Do With It?

Journal of the American College of Cardiology
2026

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

JACC. Case reports
2025

Efficacy and Safety of Sodium-Glucose Cotransporter 2 Inhibitors (SGLT2i) in Cardiac Amyloidosis: A Systematic Review.

La Tunisie medicale
2026

Plaque-associated Microglial Polarization in Visual Brain Regions of the 5xFAD Mouse Model.

bioRxiv : the preprint server for biology
2026

Linking cross-species trajectories of cerebrovascular remodeling in aging and Alzheimer's disease to brain vessel transcriptome.

bioRxiv : the preprint server for biology
2026

Novel TLR7 gain-of-function variant and review of the associated disease spectrum.

Journal of human immunity
2026

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

Cureus
2026

IL-1β neutralization ameliorates cognitive deficits and tau pathology in a mouse model of Alzheimer's disease with hyperhomocysteinemia.

Experimental neurology
2026

Quantitative enrichment of amyloid precursors refines mass spectrometry-based amyloidosis diagnosis.

Clinical proteomics
2026

Increased risk of cardiovascular diseases among patients with carpal tunnel syndrome in a multicenter global retrospective cohort study.

Scientific reports
2026

β2-microglobulin amyloid deposition and the RAGE-related inflammation pathway in ligamentum flavum thickening among patients undergoing hemodialysis: a comparative cross-sectional study from Japan.

Asian spine journal
2026

Rare cardiovascular diseases: diagnostic progress and organizational gaps: the Belgian perspective.

Acta cardiologica
2026

Preferred standard-of-care carfilzomib dosing in multiple myeloma: An international survey of haematologists/oncologists.

British journal of haematology
2026

Long-term comorbidity patterns in juvenile idiopathic arthritis.

Clinical and experimental rheumatology
2026

Cardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake.

Scientific reports
2026

Cardiomyopathy: A Guide for Primary Care.

American family physician
2026

Cardiovascular Adverse Events Associated With Bispecific T-Cell Engager Therapy.

JACC. CardioOncology
2026

AF and Stroke Risk in wtATTR-CM.

JACC. Clinical electrophysiology
2026

Serum 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 Amyloidosis
2026

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

American journal of hematology
2026

Diffuse Cutaneous Systemic Sclerosis Complicated by Serum Amyloid A Protein Cardiac Amyloidosis and Cardiogenic Shock.

CJC open
2026

MajesTEC-3: Redefining what's possible in multiple myeloma.

Clinical hematology international
2026

Nodular Pulmonary Amyloidosis Associated With Sjögren's Syndrome.

Cureus
2026

[A case of gelsolin amyloidosis presenting as nephrotic syndrome].

Zhonghua nei ke za zhi
2026

Repetitive 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 neurotrauma
2026

Addition of high-sensitivity troponin to the T-Amylo score for the diagnosis of transthyretin cardiac amyloidosis in acute heart failure: TnT-Amylo.

International journal of cardiology
2026

The burden of amyloid transthyretin cardiomyopathy in heart failure with preserved ejection fraction: looking beyond the tip of the iceberg.

Journal of cardiac failure
2026

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.

Seminars in arthritis and rheumatism
2026

Amyloid-β and tau pathology induce a reduction of the G-protein Gαo subunit in the mouse hippocampus.

Tissue &amp; cell
2026

Heart Failure in the Era of Precision Medicine: Advances, Challenges, and Future Directions.

Current cardiology reviews
2026

A molecular perspective of gelsolin amyloidosis: An old foe with new faces.

Cellular and molecular life sciences : CMLS
2026

The Amyloidosis Epidemiologic Paradox: Therapeutic Advances Amid Rising Mortality.

Journal of cardiac failure
2026

Multi-chamber speckle-tracking imaging and prognostic utility of right atrial reservoir strain in light-chain cardiac amyloidosis.

International journal of cardiology
2026

Amyloid fibril polymorphism: Structural mechanisms of assembly and the links to disease.

Current opinion in structural biology
2026

Investigating transthyretin variants H88R and I107V in amyloid priming: From destabilization to complete dissociation.

The FEBS journal
2026

Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.

Current cardiology reviews
2026

Lack of Oxygen and/or Glucose Differentially Potentiates Aβ40e22q- and Aβ42-Induced Cerebral Endothelial Cell Death, Barrier Dysfunction and Angiogenesis Impairment.

Cells
2026

Cardiovascular Prognosis in Stable Patients with Cardiac Amyloidosis: A Novel and Simple Risk Score.

Journal of clinical medicine
2026

Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.

Journal of clinical medicine
2026

Exploratory Evaluation of the Predictive Value of Serum Neurofilament Light Chain for Autonomic Neuropathy in Hereditary Transthyretin Amyloidosis.

Journal of clinical medicine
2026

Diagnostic Performance of Relative Apical Sparing Across Cardiac Diseases: A Multimodality Systematic Review and Meta-Analysis.

Journal of clinical medicine
2026

Cardiac amyloidosis across the spectrum of left ventricular function: multimodal functional and prognostic insights.

Heart (British Cardiac Society)
2026

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
2026

'Cardiomyopathy mindset' applied to Dynamic Stress Computed Tomography Perfusion: Cardiac Amyloidosis behind myocardial perfusion defects.

European heart journal. Cardiovascular Imaging
2026

Apolipoprotein A-IV Cardiac Amyloidosis Diagnosed by Mass Spectrometry-Based Proteomic Analysis.

JACC. Case reports
2026

Endomyocardial Biopsy Revisited: Diagnostic Value and Expanding Roles in Cardiac Amyloidosis.

Current heart failure reports
2026

Role of Endomyocardial Biopsy and Bachmann's Bundle Pacing for Sinus Node Dysfunction in Cardiac Amyloidosis.

JACC. Case reports
2026

Case Report: Anti-TNF-α therapy-associated destructive thyroiditis and unmasking of latent amyloid A amyloidosis in rheumatoid arthritis.

Frontiers in immunology
2026

The patient's voice: real-world experiences of a transthyretin amyloidosis focus group.

BMC health services research
2026

Comprehensive evaluation of hypertrophic cardiomyopathy: European Journal of Heart Failure expert consensus document.

European journal of heart failure
2026

Xanthelasma-like eyelid plaque secondary to periocular Demodex infestation with granulomatous dermatitis.

Orbit (Amsterdam, Netherlands)
2026

Illuminating the Invisible: Translational Molecular Imaging in Cardiovascular Medicine.

Circulation research
2026

The Unlikely Duo: Tuberculous Lymphadenitis Leading to Secondary Amyloidosis in a Young Patient.

The Journal of the Association of Physicians of India
2026

The cally index as an indicator of inflammatory burden across clinical phases of familial mediterranean fever.

Clinical rheumatology
2026

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

Annals of hematology
2026

Progress in Ventricular Arrhythmia Risk Stratification in Light Chain Cardiac Amyloidosis.

JACC. Clinical electrophysiology
2026

Canakinumab treatment in patients with colchicine-resistant familial mediterranean fever: a multicenter observational study.

Turkish journal of medical sciences
2026

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

Nature medicine
2026

A 77-Year-Old Woman With a Slowly Enlarging Pulmonary Nodule.

Chest
2026

Intense Myocardial Uptake in a Patient with Fabry Disease - a new cause of false positive of Bone Scintigraphy mimicking cardiac amyloidosis.

European heart journal. Cardiovascular Imaging
2026

Genetic evidence against clonotypic B-lymphocytes as reservoir of plasma-cell cancers.

Blood cancer discovery
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

CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.

Human gene therapy
2026

Utility of Computed Tomography for Screening of Left Atrial Thrombus Before Cardioversion of Atrial Fibrillation in a Patient With Cardiac Amyloidosis.

Circulation reports
2026

Effects of gonadectomy on brain sex hormone levels and amyloid pathology in male and female AppNL-G-F and AppNL-F mice.

Journal of neuroendocrinology
2026

Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children.

Pediatric rheumatology online journal
2026

Proof-of-concept for the application of Raman spectroscopy in differentiating the subtypes of cardiac amyloidosis.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy
2026

Posterior parietal cortex oscillatory activity reflects persistent spatial memory impairments induced by early hippocampal amyloidosis in male mice.

The Journal of physiology
2026

Correlation 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 communications
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

Phase III ATTR-CM Trials: Rethinking the "Placebo" Arm.

Circulation
2026

Transthyretin amyloid depletion therapy: lessons from the phase 2 trial of coramitug.

Heart failure reviews
2026

Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.

European journal of pediatrics
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

The theory of hypertensive heart disease and heart failure: revisiting the evidence and pathophysiology.

Journal of hypertension
2026

Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review.

Frontiers in genetics
2026

Quantitative Analysis of Amyloid Fibril Nucleation by Linking Folding and Nucleation Pathways Using a Robust Ultrasonic Assay.

ACS omega
2026

Diabetes Mellitus Accelerates Alzheimer's Disease Development by Affecting the Gut Microbiome.

BioMed research international
2026

Giant Cell Arteritis With Medin-Derived Amyloid (AMed) Deposition in a Patient With COVID-19: An Autopsy Case.

Pathology international
2026

Lysozyme 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 Amyloidosis
2026

Selective weakening of population-coupled synaptic activity in vivo in a mouse model of amyloid-beta pathology.

Nature communications
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

Ultrasonication-induced in vitro formation of transthyretin mature amyloid fibrils at neutral pH.

Protein science : a publication of the Protein Society
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

Secondary Amyloidosis in Hidradenitis Suppurativa: A Case Series and a Proposal for Practical Screening Recommendations.

International journal of dermatology
2026

Obstructive sleep apnea severity, Alzheimer's disease plasma markers, and CSF brain amyloidosis and tau pathology.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Metabolically Silent Diffuse Hepatic Involvement in Multiple Myeloma: An 18F-FDG-PET/CT Pitfall.

Molecular imaging and radionuclide therapy
2026

Coronary Microvascular Dysfunction in Cardiomyopathies: Insights on Clinical and Prognostic Roles.

Reviews in cardiovascular medicine
2026

TREM2 and microglial immunity in Alzheimer's disease: mechanisms, genetics, and therapeutic opportunities.

Frontiers in immunology
2026

Therapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin-Mediated Amyloidosis: A Systematic Review.

Health science reports
2026

Intermittent White Urine With Nephrotic-Range Proteinuria and Preserved Renal Function: A Diagnostic Dilemma Between Chyluria, Pseudochyluria, and Amyloidosis.

Cureus
2026

[Managing ATTR amyloidosis in general practice].

MMW Fortschritte der Medizin
2026

The short-chain fatty acid butyrate prevents gut-brain amyloid-β pathology and neuroinflammation in an Alzheimer mouse model.

Molecular psychiatry
2026

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

Modern rheumatology case reports
2026

Amyloidosis of the eyelid and conjunctiva.

Archivos de la Sociedad Espanola de Oftalmologia
2026

Automating Chart Review Using an Artificial Intelligence-Enabled System for Assessing Transthyretin Amyloid Cardiomyopathy Trial Eligibility.

Journal of cardiac failure
2026

Clinical, genetic, and therapeutic differences in pediatric versus adult colchicine-resistant FMF patients.

Pediatrics international : official journal of the Japan Pediatric Society
2026

Systemic 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 Amyloidosis
2026

Genomic 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 epitheorese
2026

Racial differences in natriuretic peptide levels in wild type transthyretin amyloid cardiomyopathy.

International journal of cardiology
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

Efficacy and Safety of Vutrisiran in Patients with Hereditary Transthyretin-mediated Amyloidosis with Polyneuropathy: Analysis of the East Asian Subpopulation from HELIOS-A.

Neurology and therapy
2026

Pulmonary light chain deposition disease secondary to Sjögren disease: a case report.

Frontiers in immunology
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
2025

Atrial cardiomyopathy in cardiac amyloidosis: clinical imaging and manifestations.

NPJ cardiovascular health
2026

Isolated medial temporal lobe amnesia (MTLA): Predictor of cerebral amyloidosis or marker of phenotype-specific vulnerability?

Revue neurologique
2026

Enhanced 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 cancer
2026

Publisher Correction: QTc interval prolongation as a marker of disease stage in transthyretin cardiac amyloidosis.

Clinical research in cardiology : official journal of the German Cardiac Society
2026

Early 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 Amyloidosis
2026

Disseminated superficial porokeratosis with dermal amyloid deposits: A case report and review of the literature.

The Journal of international medical research
2026

Bilateral Amyloid Arthropathy of the Hip Joint Presented with Pathologic Fracture in a Hemodialysis Patient: A Case Report.

Hip &amp; pelvis
2026

A tale of two tracers-does one outperform the other?

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
2026

Correspondence on 'EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update' by Ozen et al.

Annals of the rheumatic diseases
2026

Impact of acoramidis on clinical stability in transthyretin amyloid cardiomyopathy: Observations from ATTRibute-CM.

European journal of heart failure
2026

Contemporary 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 failure
2026

Possible ways of building trial-level evidence for heart failure therapies in cardiac amyloidosis.

European journal of heart failure
2026

[Update on hypertrophic cardiomyopathy].

Innere Medizin (Heidelberg, Germany)
2025

Quantitative diagnosis of amyloid without Congo red staining using polarized light microscopy.

Biomedical optics express
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

Concomitant Cardiac Transthyretin Amyloidosis and Coronary Artery Disease---Imaging Features and Pitfalls.

CJC open
2026

Cardiac Resynchronization Therapy Associated With Improved Survival in Advanced Transthyretin Cardiac Amyloidosis Despite Higher Disease Severity.

The American journal of cardiology
2026

Attruby for the treatment of transthyretin amyloid cardiomyopathy (ATTR-CM).

Trends in pharmacological sciences
2026

Autonomic dysfunction in patients with wild-type transthyretin amyloidosis.

Journal of neurology
2026

Limited Accuracy of Noninvasive Tests in Posttransplant Liver Fibrosis Assessment.

Archives of pathology &amp; laboratory medicine
2026

Left Atrial Appendage Occlusion in Atrial Fibrillation With Structural Heart Disease: Progress, Promise, and Gaps.

JACC. Clinical electrophysiology
2026

Incidence and Predictors of Appropriate Implantable Cardioverter-Defibrillator Therapy in Light Chain Cardiac Amyloidosis.

JACC. Clinical electrophysiology
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

Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.

Journal of clinical medicine
2026

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

Journal of clinical medicine
2026

Longitudinal Displacement vs. Strain in Cardiac Amyloidosis: A Speckle Tracking Echocardiography Study.

Journal of clinical medicine
2026

Emerging Pharmacological Strategies for Cardiac Amyloidosis: A Qualitative Analysis of Interventional Clinical Trials Registered on ClinicalTrials.Gov.

Journal of clinical medicine
2026

Association Between Common Variable Immunodeficiency and Pulmonary Amyloidosis: Review.

Journal of clinical medicine
2026

Left Atrial Strain Correlation with Functional Capacity and Additional Prognostic Value of Speckle Tracking in Cardiac Amyloidosis: A Prospective, Single-Center Study.

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

Echocardiographic Red Flags in Wild-Type Transthyretin Amyloidosis: Sex-Specific Gaps for Wall Thickness and Left Ventricular Mass.

Life (Basel, Switzerland)
2026

Aortic Valve Annular Properties in Cardiac Amyloidosis-Insights from the Three-Dimensional Speckle Tracking Echocardiographic MAGYAR-Path Study.

Biomedicines
2026

Body-Wide Glycolytic Shift, Oxidative Stress, and Sex-Specific Effect of Caloric Restriction in a Mouse Model of Alzheimer's Disease.

Antioxidants (Basel, Switzerland)
2026

Rapamycin Reduces Amyloid-β Plaques and Improves Behavioral Performance in a Sex-Dependent Manner in Mouse Models of Amyloidosis.

CNS neuroscience &amp; therapeutics
2026

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

BMC nephrology
2026

Trends in cardiac amyloidosis hospital admissions and associated mortality risk over 20 years: a population-based study using healthcare administrative databases.

European journal of internal medicine
2026

Parametric 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 Medicine
2026

Prognostic value of left atrial function in cardiac amyloidosis: a systematic review and meta‑analysis.

The international journal of cardiovascular imaging
2026

Endothelial PAI-1 Drives Lead-Induced Cerebral Amyloid Angiopathy via Activation of C3+ Decorin+ A1-like Astrocytes.

Biology
2026

Lysozyme 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 Amyloidosis
2026

Validity of Amyloidosis in the Danish National Patient Registry.

Clinical epidemiology
2026

Antimicrobial Peptides as Cross-Seeding Modulators at the Neurodegenerative-Infectious Interface.

Research (Washington, D.C.)
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

[Hereditary transthyretin amyloidosis presenting as vitreous opacities].

Journal francais d'ophtalmologie
2026

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

Journal of the American Academy of Dermatology
2026

Neuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.

Brain, behavior, and immunity
2026

Inhibition of amyloid formation of keratin-derived peptide by rosmarinic acid.

Bioorganic &amp; medicinal chemistry
2026

Abnormal myocardial perfusion reserve and myocardial infarction determine cardiovascular outcomes in type 2 diabetes mellitus.

European heart journal. Cardiovascular Imaging
2026

Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.

Frontiers in nuclear medicine
2026

Vutrisiran for transthyretin amyloidosis.

Australian prescriber
2026

Vascular smooth muscle cell loss, but not neuroinflammation, drives cerebrovascular reactivity impairment in Alzheimer's disease.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
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Doenças relacionadas

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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. 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 neurologiques· 2026· PMID 41877517mais citado
  2. Early-onset axonal pathology and &#x3b2;-amyloidosis in human brains with hematological malignances and cardiovascular diseases.
    Neuroscience· 2026· PMID 41876055mais citado
  3. Impact of age on outcomes after CD19 CAR T-cell therapy for large B-cell lymphomas.
    Blood neoplasia· 2026· PMID 41867486mais citado
  4. Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.
    medRxiv : the preprint server for health sciences· 2026· PMID 41867206mais citado
  5. Iatrogenic Cerebral Amyloid Angiopathy After Cardiac Surgery: Two Case Reports.
    Neurology· 2026· PMID 41855455mais 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. Carboranyl-Curcuminoids for the Neutron Capture-Based Treatment of Amyloid Aggregates in Alzheimer's Disease.
    Adv Sci (Weinh)· 2026· PMID 41992414recente
  8. Visceral technetium-99 m-labeled pyrophosphate uptake in patients with wild-type transthyretin cardiac amyloidosis.
    Ann Nucl Med· 2026· PMID 41989649recente
  9. Semi-quantitative evaluation of early phase (99m)Tc-DPD scintigraphy in patients with suspected cardiac amyloidosis.
    Ann Nucl Med· 2026· PMID 41989648recente
  10. Cryo-EM reveals structural variability of apolipoprotein A-I amyloid fibrils across organs, mutations, and clinical presentations.
    Nat Commun· 2026· PMID 41991931recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:69(Orphanet)
  2. MONDO:0019065(MONDO)
  3. Polineuropatia Amiloidotica Familiar(PCDT · Ministério da Saúde)
  4. GARD:18676(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q816798(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
Compêndio · Raras BR

Amiloidose

ORPHA:69 · MONDO:0019065
🇧🇷 Brasil SUS
CEAF
1ATafamidisPatisiranInotersen
Geral
Prevalência
Unknown
CID-10
E85.0 · Amiloidose heredofamiliar não-neuropática
CID-11
Ensaios
22 ativos
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0002726
Wikidata
Wikipedia
Papers 10a
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