É uma doença genética rara que afeta vários sistemas do corpo, com início geralmente na fase adulta. Ela é caracterizada por uma neuropatia progressiva, que causa danos aos nervos que controlam a sensibilidade, o movimento e as funções automáticas do corpo, e também por uma cardiomiopatia infiltrativa, uma doença em que o músculo cardíaco é prejudicado. As manifestações nos nervos geralmente começam com a perda de sensibilidade nas mãos e pés, e progridem para problemas de movimento. A cardiomiopatia se manifesta com alterações no ritmo cardíaco e insuficiência cardíaca (quando o coração não consegue bombear sangue suficiente). A doença frequentemente também apresenta outros sinais e sintomas devido ao envolvimento de órgãos como os olhos, rins, o sistema nervoso central (cérebro e medula espinhal) e o aparelho digestivo.
Introdução
O que você precisa saber de cara
A Amiloidose ATTR hereditária é uma doença genética rara em que proteínas anormais se acumulam no corpo, prejudicando principalmente os nervos e o músculo do coração. A família costuma perceber perda gradual de sensibilidade ou formigamento nas mãos e nos pés, além de cansaço ou falta de ar causados pelas alterações nos batimentos cardíacos. O diagnóstico pode ser comprovado com testes genéticos específicos e exames laboratoriais detalhados. No Brasil, o SUS oferece acompanhamento por protocolo oficial e dispensa o medicamento Tafamidis meglumina cápsula 20 mg para os casos indicados.
É uma doença genética rara que afeta vários sistemas do corpo, com início geralmente na fase adulta. Ela é caracterizada por uma neuropatia progressiva, que causa danos aos nervos que controlam a sensibilidade, o movimento e as funções automáticas do corpo, e também por uma cardiomiopatia infiltrativa, uma doença em que o músculo cardíaco é prejudicado. As manifestações nos nervos geralmente começam com a perda de sensibilidade nas mãos e pés, e progridem para problemas de movimento. A cardiomiopatia se manifesta com alterações no ritmo cardíaco e insuficiência cardíaca (quando o coração não consegue bombear sangue suficiente). A doença frequentemente também apresenta outros sinais e sintomas devido ao envolvimento de órgãos como os olhos, rins, o sistema nervoso central (cérebro e medula espinhal) e o aparelho digestivo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 124 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Curadoria gene-doença
fontes oficiaisHypoalphalipoproteinemia, 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, 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.
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.
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.
Variantes genéticas (ClinVar)
117 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
35 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Amiloidose ATTR hereditária
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 40 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
19 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
78 ensaios clínicos encontrados, 28 ativos.
Publicações mais relevantes
Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.
To evaluate the effectiveness of positron emission tomography (PET) with [11C]-Pittsburgh Compound-B ([11C]PiB) for detecting transthyretin amyloid (ATTR) cardiomyopathy in patients with transthyretin gene (TTR) variants associated with reduced bone scintigraphy sensitivity, and its ability to detect brain involvement in hereditary transthyretin amyloidosis. This prospective case series included four hereditary ATTR amyloidosis patients with TTR variants associated with reduced bone scintigraphy sensitivity, and two patients with positive bone scintigraphy (one hereditary ATTR and one wild-type ATTR amyloidosis patient). All patients underwent diagnostic work-up at the Groningen Amyloidosis Centre of Expertise between April 2024 and March 2025, including [11C]PiB PET/CT. Cardiac and brain [11C]PiB uptake were assessed visually. Target-to-background ratios (TBRs) and cortical SUV ratios were calculated. TBR ≥1.09 was considered positive for ATTR cardiomyopathy and SUV ratios ≥0.7 was considered positive for brain involvement. Cardiac [11C]PiB uptake was observed in three of four hereditary ATTR amyloidosis patients despite negative bone scintigraphy. In one of four patients, there was visually equivocal radiotracer uptake, but elevated TBRs did indicate ATTR cardiomyopathy. Conversely, both hereditary ATTR and wild-type ATTR amyloidosis patients with a positive bone scintigraphy had negative or inconclusive [11C]PiB PET results. Brain uptake was observed in two asymptomatic patients, while no uptake was seen in two patients with suspected brain involvement. [11C]PiB PET could be an effective tool for detecting ATTR cardiomyopathy in patients with TTR variants associated with reduced bone scintigraphy sensitivity. However, its utility for detecting brain involvement in symptomatic hereditary ATTR patients remains uncertain.
Atypical gastrointestinal presentation of hereditary transthyretin amyloidosis: a case report highlighting the diagnostic challenge.
Hereditary transthyretin amyloidosis (ATTR) is a rare, progressive multisystem disease, often underdiagnosed due to its heterogeneous presentation. This case highlights an atypical presentation of ATTR amyloidosis dominated by gastrointestinal symptoms and the diagnostic pitfalls associated with certain genetic subtypes that may escape standard imaging modalities. We present a 68-year-old man with severe gastrointestinal symptoms and extreme weight loss, over a prolonged period. Initial investigations were inconclusive across multiple centres. A deep intestinal biopsy eventually revealed amyloid deposition, and subsequent genetic testing confirmed hereditary ATTR amyloidosis. Cardiac magnetic resonance imaging revealed myocardial involvement despite a negative 99mTc-HDP scintigraphy. The patient was referred for targeted therapy. This case underscores the need for high clinical suspicion and a multidisciplinary approach when encountering unexplained gastrointestinal and cardiac symptoms. It also demonstrates the value of the European Society of Cardiology guidelines as a reliable reference point for guiding further management when diagnostic uncertainty arises.
Effects of Tafamidis Meglumine on Transient Focal Neurological Episodes and Meningeal Contrast Enhancement in Hereditary Transthyretin-Related Meningeal Amyloidosis: Report of Two Patients Carrying the c.265T>C (p.Y89H) Variant.
Y69H (p.Y89H) variant hereditary transthyretin (ATTRv) amyloidosis causes meningeal amyloidosis, with mutant TTR deposits localized to the leptomeninges and vitreous body. The effect of tafamidis meglumine on neurological disorders, such as the frequency of transient focal neurological episodes (TFNEs), magnetic resonance imaging (MRI) findings, and TTR levels in cerebrospinal fluid, was investigated in two patients diagnosed with Y69H ATTRv mutation. The initial symptoms in both patients were TFNEs, such as aphasia, sensory disturbance, motor paralysis, ataxia, and drop attacks. Neither epileptic drugs nor antiplatelet therapy decreased the frequency of attacks. The patients exhibited diffuse leptomeningeal enhancement on brain and spinal MRI. Tafamidis meglumine was initiated at a dose of 20 mg/day and was found to be partially effective. The TFNEs nearly resolved, and meningeal enhancement on brain MRI improved; however, the neurological deficits progressed over the following 2 years. Tafamidis had a partial effect on TFNEs and meningeal contrast enhancement on MRI; however, cerebellar ataxia and cognitive decline continued to progress.
Clinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A).
Over 150 transthyretin (TTR) mutations have been identified in hereditary transthyretin (ATTRv) amyloidosis, and new TTR variants have recently emerged. However, the pathogenicity of several new variants remains unclear, making it important to elucidate the differences between amyloidogenic and wild-type TTR. In this study, we report a novel TTR variant (V121A) identified in two unrelated amyloidosis patients aged > 60 years who developed cardiomyopathy. We evaluated the detailed biochemical features of this TTR variant to confirm its amyloidogenicity using plasma samples from these patients and recombinant TTR proteins. While the V121A TTR variant has a similar ability to assemble into a tetramer as wild-type TTR, it aggregates more readily over a wide potential hydrogen range than wild-type TTR. Additionally, the V121A variant is highly prone to dissociation and resistant to binding with known TTR tetramer stabilizers. Clinical and biochemical data suggest that this novel variant is clearly pathogenic, is highly prone to dissociation and aggregation, and is associated with the development of late-onset amyloid cardiomyopathy. Interestingly, amyloid fibril formation due to this variant may not be affected by known TTR stabilizers.
Clinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.
Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration. To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration. This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023. Inclusion criteria were asymptomatic ATTR cardiac amyloid infiltration, defined as an absence of HF history, HF signs and symptoms, diuretic therapy, and plasma cell dyscrasia with evidence of myocardial uptake on bone scintigraphy. If plasma cell dyscrasia was present, histologic confirmation of ATTR amyloid was required. Asymptomatic ATTR cardiac amyloid infiltration. The primary outcomes were all-cause and cardiovascular (CV) mortality. The secondary outcomes were unplanned HF hospitalization, unplanned CV-related hospitalization, and a composite outcome of CV mortality and HF hospitalization. The study comprised 485 patients with asymptomatic ATTR cardiac amyloid infiltration (mean [SD] age, 74.9 [9.9] years, 85.8% male, 112 [23.1%] with hereditary ATTR amyloidosis), with 369 (76.1%) having grade 2 or 3 and 116 (23.9%) having grade 1 cardiac uptake at baseline. Patients with grade 2 or 3 uptake exhibited significantly more cardiac functional and structural abnormalities vs patients with grade 1 uptake. At 3 years, compared with grade 1 uptake, patients with grade 2 or 3 uptake had greater development of HF (54.3% [95% CI, 47.7%-61.3%] vs 23.1% [95% CI, 14.8%-35.1%]), greater outpatient diuretic initiation and N-terminal pro-B-type natriuretic peptide progression (35.0% [95% CI, 28.0%-43.2%] vs 12.4% [95% CI, 6.3%-23.7%]), and greater HF hospitalization (8.7% [95% CI, 5.9%-12.9%] vs 0%) and unplanned CV hospitalization (20.0% [95% CI, 15.7%-25.3%] vs 4.3% [95% CI, 1.6%-11.3%]). Over a median follow-up of 37 months (IQR, 20-64 months), the all-cause death rate was similar between patients with grade 1 vs 2 and 3 uptake; however, those with grade 2 or 3 compared with grade 1 uptake had a significantly higher risk of CV mortality (unadjusted hazard ratio, 5.30; 95% CI, 1.92-14.65). This study shows that asymptomatic ATTR cardiac amyloid infiltration encompasses a wide spectrum of disease severity, with patients with grade 2 or 3 cardiac uptake experiencing an increased rate of CV events and CV mortality and patients with grade 1 uptake experiencing a lower CV event rate and predominantly non-CV mortality. These findings support the use of disease-modifying treatments in asymptomatic patients with grade 2 or 3 uptake and highlight the need of large-scale studies to assess their role in grade 1 uptake.
Publicações recentes
Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.
Atypical gastrointestinal presentation of hereditary transthyretin amyloidosis: a case report highlighting the diagnostic challenge.
Impact of High-Dose Tafamidis on Hereditary ATTR (ATTRv) Amyloidosis With Central Nervous System Involvement: Two Case Reports With Clinical, Radiological and Cerebrospinal Fluid Follow Up.
Long-Term Peritoneal Dialysis in Hereditary Transthyretin Amyloidosis: A Case Report and Management Challenges.
Effects of Tafamidis Meglumine on Transient Focal Neurological Episodes and Meningeal Contrast Enhancement in Hereditary Transthyretin-Related Meningeal Amyloidosis: Report of Two Patients Carrying the c.265T>C (p.Y89H) Variant.
📚 EuropePMC51 artigos no totalmostrando 101
Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.
Frontiers in nuclear medicineAtypical gastrointestinal presentation of hereditary transthyretin amyloidosis: a case report highlighting the diagnostic challenge.
European heart journal. Case reportsImpact of High-Dose Tafamidis on Hereditary ATTR (ATTRv) Amyloidosis With Central Nervous System Involvement: Two Case Reports With Clinical, Radiological and Cerebrospinal Fluid Follow Up.
Journal of the peripheral nervous system : JPNSLong-Term Peritoneal Dialysis in Hereditary Transthyretin Amyloidosis: A Case Report and Management Challenges.
CureusEffects of Tafamidis Meglumine on Transient Focal Neurological Episodes and Meningeal Contrast Enhancement in Hereditary Transthyretin-Related Meningeal Amyloidosis: Report of Two Patients Carrying the c.265T>C (p.Y89H) Variant.
Brain and behaviorAtypical Presentation of Hereditary ATTR Amyloidosis with Gastrointestinal and Hepatic Manifestations in an 88-Year-Old Woman: A Case Report.
The American journal of case reportsClinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A).
International journal of molecular sciencesGenetic Mutations and Post-Lung Transplant Complications: A Case of Hereditary Transthyretin Amyloidosis.
Transplantation proceedingsClinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.
JAMA cardiologyPathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisInvolvement of bile acid in diarrhoea and therapeutic effect of colestimide in hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisNeurofilament light chain as a biomarker for hereditary ATTR amyloidosis - correlation between neurofilament light chain and nerve conduction study.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis[Proposals for the early diagnosis of late-onset hereditary ATTR amyloidosis in nonendemic areas in Japan].
Rinsho shinkeigaku = Clinical neurologyCochlear implants for hereditary ATTR amyloidosis: a case report of two cases.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryTransthyretin Cardiac Amyloidosis in an Elderly Male With Heart Failure Intolerant to Guideline-Directed Medical Therapy.
CureusWild-Type Transthyretin Amyloidosis: A Prevalent and Underdiagnosed Cause of Heart Failure With Preserved Ejection Fraction.
CureusWhole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Brain : a journal of neurology[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Terapevticheskii arkhivCommon transthyretin-derived amyloid fibril structures in patients with hereditary ATTR amyloidosis.
Nature communicationsLessons from the first-in-human in vivo CRISPR/Cas9 editing of the TTR gene by NTLA-2001 trial in patients with transthyretin amyloidosis with cardiomyopathy.
Global cardiology science & practiceResveratrol Derivatives Inhibit Transthyretin Fibrillization: Structural Insights into the Interactions between Resveratrol Derivatives and Transthyretin.
Journal of medicinal chemistryRandall-Type Monoclonal Immunoglobulin Deposition Disease in Bone Scintigraphy.
Clinical nuclear medicineGeneration of two induced pluripotent stem cell lines from patients with cardiac amyloidosis carrying heterozygous transthyretin (TTR) mutation.
Stem cell researchPersistent Heart Failure Despite Medical Therapy Leading to a Diagnosis of Cardiac Amyloidosis.
CureusConsensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals.
BMJ open[Neurological manifestations of ATTR amyloidosis].
Innere Medizin (Heidelberg, Germany)Strong positive light chain immunostaining in a patient with transthyretin amyloidosis.
Hematology (Amsterdam, Netherlands)[Therapeutic Strategies for Hereditary Transthyretin Amyloidosis].
Brain and nerve = Shinkei kenkyu no shinpoHereditary transthyretin amyloidosis presenting with spontaneous periorbital purpura: a case report.
European heart journal. Case reportsNeurofilament light chain as a biomarker for monitoring response to change in treatment in hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisFirst Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant.
Scandinavian cardiovascular journal : SCJEffect of patisiran on stroke volume in hereditary transthyretin-mediated amyloidosis: insights from pressure-volume analysis of the APOLLO study.
European journal of heart failureCombinatorial screening for therapeutics in ATTRv amyloidosis identifies naphthoquinone analogues as TTR-selective amyloid disruptors.
Journal of pharmacological sciencesPractice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Internal medicine (Tokyo, Japan)Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisCutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages.
Annals of clinical and translational neurology[ATTRv amyloidosis with early improvement demonstrated by the 6-minute walk test following Patisiran therapy: a case report].
Rinsho shinkeigaku = Clinical neurologyClinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.
Advances in therapyCSF/plasma levels, transthyretin stabilisation and safety of multiple doses of tolcapone in subjects with hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTransthyretin: Its function and amyloid formation.
Neurochemistry internationalDelivery Strategies for mRNA Vaccines.
Pharmaceutical medicineChanges in nerve conduction studies predate clinical symptoms onset in early onset Val30Met hereditary ATTR amyloidosis.
European journal of neurologyProgressive vitreous deposits during treatment with inotersen for hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis[Genetic counseling and predictive testing for hereditary neuromuscular diseases].
Rinsho shinkeigaku = Clinical neurologyThe Role of Imaging in Diagnosing Transthyretin Cardiac Amyloidosis.
CureusInnovative lipoplexes formulations with enhanced siRNA efficacy for cancer treatment: Where are we now?
International journal of pharmaceuticsCRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
The New England journal of medicineConversion of 99mtechnetium-pyrophosphate scintigraphy in a patient with hereditary ATTR amyloidosis: importance of repeat scanning.
European heart journal. Case reportsTetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyReduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression.
JACC. Cardiovascular imagingLate-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) Transthyretin Variant.
Internal medicine (Tokyo, Japan)Content Validation of the ATTR Amyloidosis Patient Symptom Survey: Findings from Patient and Clinician Cognitive Debriefing Interviews.
Patient related outcome measuresHereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Journal of clinical medicineTTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisAmyloidosis-the Diagnosis and Treatment of an Underdiagnosed Disease.
Deutsches Arzteblatt internationalTafamidis: a selective transthyretin stabilizer to treat wild-type ATTR amyloidosis and hereditary ATTR amyloidosis with cardiomyopathy.
Drugs of today (Barcelona, Spain : 1998)Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisCoexistence of wild type and hereditary ATTR amyloidosis in one family.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisCryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis.
Nature communicationsSporadic Cardiac Amyloidosis by Amyloidogenic Transthyretin V122I Variant.
International heart journalAssociation between hearing loss and hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisCharacteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyNovel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyA case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisHereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S).
Internal medicine (Tokyo, Japan)Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review.
Journal of the American College of CardiologyTransthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTafamidis dramatically improved severe proteinuria in a patient with TTR V30M hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisElectrophysiological demyelinating features in hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisSudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisCause of death analysis and temporal trends in survival after liver transplantation for transthyretin familial amyloid polyneuropathy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTTR Gene Silencers for Hereditary ATTR Amyloidosis: More than ICER Recognized.
Journal of managed care & specialty pharmacyHereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report.
Journal of medical case reportsScreening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.
Muscle & nerveA library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisDiagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.
Orphanet journal of rare diseasesGenetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.
Journal of neurologyHereditary ATTR amyloidosis: burden of illness and diagnostic challenges.
The American journal of managed careAmyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation.
Internal medicine (Tokyo, Japan)Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTrial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy.
BMC neurologyGenetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisThe Swedish landscape of hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisAmyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisPseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisMarked biochemical difference in amyloid proportion between intra- and extraocular tissues in a liver-transplanted patient with hereditary ATTR amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisExtremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTafamidis in hereditary ATTR amyloidosis - our experience on monitoring the ocular manifestations.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisLiver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease.
Transplantation reviews (Orlando, Fla.)Positron emission tomography (PET) utilizing Pittsburgh compound B (PIB) for detection of amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR).
Journal of nuclear cardiology : official publication of the American Society of Nuclear CardiologyCerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis.
NeurologyTransthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.
Journal of the peripheral nervous system : JPNSPreclinical evaluation of RNAi as a treatment for transthyretin-mediated amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisCardiac Amyloid - An Update.
European cardiologyFirst European Congress on Hereditary ATTR amyloidosis.
Orphanet journal of rare diseasesPathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype.
Journal of the peripheral nervous system : JPNSSafety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisHereditary ATTR amyloidosis: a single-institution experience with 266 patients.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisOutcome of gastric emptying and gastrointestinal symptoms after liver transplantation for hereditary transthyretin amyloidosis.
BMC gastroenterology[Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy].
Rinsho shinkeigaku = Clinical neurologyTransthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Journal of neurology, neurosurgery, and psychiatryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Amiloidose ATTR hereditária.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Amiloidose ATTR hereditária e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Amiloidoses Associadas à Transtirretina". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
É uma doença genética rara com início habitual na idade adulta que atinge vários órgãos corporais. Ela se manifesta principalmente por uma neuropatia progressiva e danos infiltrativos no músculo do coração.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 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 ATTR hereditária. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/amiloidose-attr-hereditaria
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Amiloidose ATTR hereditária
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
