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1.
Arch. cardiol. Méx ; 90(3): 259-265, Jul.-Sep. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1131042

ABSTRACT

Resumen Antecedentes y objetivo: La amiloidosis cardíaca es una entidad que permanece infradiagnosticada, a pesar de los avances recientes en su diagnóstico y tratamiento. El objetivo de este estudio es revisar una serie de casos de amiloidosis cardíaca para describir los principales datos clínicos y los hallazgos en las pruebas de imagen. Materiales y métodos: Estudio retrospectivo de pacientes con diagnóstico principal o secundario de amiloidosis cardíaca en los informes de alta de pacientes hospitalizados en este centro desde 2006 hasta 2016. Se revisaron los datos clínicos de los pacientes, así como las pruebas de imagen (ECG, ecocardiograma, gammagrafía cardíaca, resonancia magnética cardíaca). Se realizó seguimiento de los pacientes hasta enero de 2018. Resultados: Se analiza a 30 pacientes (20 varones) con media de 65 años. Los principales datos ecocardiográficos fueron dilatación biauricular, disfunción diastólica e hipertrofia ventricular izquierda (HVI) en un 97%. Sólo el 6.7% cumplía criterios de HVI en el electrocardiograma. Hasta un 33% tenía disfunción sistólica. Se realizó gammagrafía y resonancia magnética cardíaca en un 33%. La supervivencia a los 12 meses fue de 61%. Conclusión: La presencia de insuficiencia cardíaca, fibrilación auricular o trastornos de conducción junto a datos ecocardiográficos indicativos debe alertar al clínico. Otros datos como disfunción sistólica o sexo femenino no deben disminuir la sospecha. El estudio debe completarse con gammagrafía y resonancia magnética cardíaca, ya que el diagnóstico temprano tiene implicaciones pronósticas y terapéuticas.


Abstract Background and objective: Cardiac amyloidosis is an entity that remains underdiagnostic, despite recent advances in its diagnosis and treatment. The aim of this study is to review a series of diagnosed cases of cardiac amyloidosis to describe the main clinical data and the findings in the imaging tests. Materials and methods: Retrospective study of patients with primary or secondary diagnosis of cardiac amyloidosis in discharge reports of patients hospitalized in our center from 2006 to 2016. The clinical data of the patients were reviewed, as well as the imaging tests (ECG, echocardiogram, cardiac scintigraphy, cardiac magnetic resonance). Patients were followed until January 2018. Results: We analyze 30 patients (20 men) with an average of 65 years. The main echocardiographic data were biatrial dilatation, diastolic dysfunction and left ventricular hypertrophy (LVH) in 97%. Only 6.7% met criteria for LVH in the electrocardiogram. Up to 33% had systolic dysfunction. Scintigraphy and cardiac magnetic resonance were performed in 33%. Survival at 12 months was 61%. Conclusion: The presence of heart failure, atrial fibrillation or conduction disorders with suggestive echocardiographic data should alert the clinician. Other data such as systolic dysfunction or female sex should not decrease the suspicion. The study should be completed with gammagraphy and cardiac magnetic resonance since early diagnosis has prognostic and therapeutic implications.


Subject(s)
Humans , Male , Female , Aged , Heart Diseases/diagnosis , Amyloidosis/diagnosis , Magnetic Resonance Imaging , Echocardiography , Radionuclide Imaging , Retrospective Studies , Follow-Up Studies , Electrocardiography , Heart Diseases/physiopathology , Amyloidosis/physiopathology
2.
Braz. j. med. biol. res ; 53(6): e8625, 2020. tab, graf
Article in English | ColecionaSUS, LILACS, ColecionaSUS | ID: biblio-1132515

ABSTRACT

Amyloidosis comprises a group of disorders that accumulate modified autologous proteins in organs, mainly the kidneys. Few studies have addressed the amyloid compartmental distribution and associated clinical outcomes. The aim of this study was to present a case series of renal amyloidosis correlating histopathological data with glomerular filtration rate (GFR) during kidney biopsy. We studied 53 cases reviewed by nephropathologists from 2000 to 2018 in a single kidney biopsy center in Brazil. GFR was estimated using the CKD-EPI formula. Cases were divided into Group A ≥60 and Group B <60 mL·min−1·(1.73 m2)−1 using the estimated GFR during kidney biopsy. Semiquantitative histopathological study was performed, including extension and distribution of amyloid deposits by compartments (glomeruli, tubulointerstitial tissue, and vessels). Statistical analyses were made to understand associations with lower GFR. No difference was seen for age, gender, proteinuria, hematuria, subtype of amyloid protein, arteriosclerosis, interstitial fibrosis/infiltrate, or glomerular and interstitial amyloid deposits. After a previous P value <0.1 in the descriptive analysis, the following variables were selected: globally sclerotic glomeruli, high blood pressure, and the extension of vascular amyloid deposition. A binary logistic regression model with GFR as the dependent variable showed history of hypertension and vascular amyloid to be robust and independent predictors of Group B <60 mL·min−1·(1.73 m2)−1. Beyond the histopathologic diagnosis of amyloidosis, a semiquantitative approach on renal biopsy could provide new insights. Vascular amyloid is an independent predictor of renal dysfunction in cases of renal amyloidosis.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Glomerular Filtration Rate , Amyloid/physiology , Amyloidosis/pathology , Kidney/pathology , Kidney Diseases/pathology , Biopsy , Retrospective Studies , Amyloidosis/physiopathology , Kidney/physiopathology , Kidney Diseases/physiopathology
4.
Säo Paulo med. j ; 137(1): 39-44, Jan.-Feb. 2019. tab
Article in English | LILACS | ID: biblio-1004743

ABSTRACT

ABSTRACT BACKGROUND: Up to 5% of familial Mediterranean fever (FMF) cases are unresponsive to colchicine, through resistance, side effects and toxicity. Anakinra is an alternative treatment for FMF patients whose disease remains uncontrolled with colchicine. We aimed to evaluate anti-interleukin-1 treatment regarding clinical findings, laboratory parameters and quality of life (QoL) among FMF patients presenting resistance and toxicity towards colchicine. DESIGN AND SETTING: Descriptive observational study at the rheumatology clinic, Adnan Menderes University Medical School, Aydın, Turkey. METHODS: Among the patients included, age, sex, MEFV genotypes, acute-phase reactants, hepatic/renal function tests, average colchicine dose, disease duration, attack frequency, attack duration, disease severity, proteinuria, amyloidosis and QoL were evaluated. Colchicine resistance was defined as > 6 typical episodes/year or > 3 per 4-6 months. Kolmogorov-Smirnov, Friedman and two-way analysis of variance tests were used for statistical analyses. RESULTS: Between 2015 and 2017, 14 FMF patients receiving anakinra were enrolled. The mean colchicine dose was 1.7 ± 0.3 mg/day before use of anakinra. Ten patients were attack-free after treatment, while three showed reductions of at least 50% in attack frequency, attack duration and disease severity. Proteinuria levels in all patients with renal amyloidosis decreased after treatment. QoL among patients with renal amyloidosis differed significantly from QoL among non-amyloidosis patients. Mean visual analogue scale scores significantly improved in both groups after use of anakinra. CONCLUSIONS: Use of anakinra reduced attack frequency and proteinuria and acute-phase reactant levels, and improved QoL, with only a few uncomplicated side effects among colchicine-resistant or intolerant FMF patients. Injection-site reactions of severity insufficient to require discontinuation of treatment were seen.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Familial Mediterranean Fever/drug therapy , Quality of Life , Drug Resistance/drug effects , Colchicine/therapeutic use , Interleukin-1/antagonists & inhibitors , Antirheumatic Agents/therapeutic use , Interleukin 1 Receptor Antagonist Protein/therapeutic use , Familial Mediterranean Fever/physiopathology , Proteinuria/urine , Reference Values , Time Factors , Turkey , Severity of Illness Index , Blood Sedimentation , Reproducibility of Results , Retrospective Studies , Analysis of Variance , Treatment Outcome , Statistics, Nonparametric , Visual Analog Scale , Amyloidosis/physiopathology , Amyloidosis/drug therapy , Kidney Diseases/physiopathology , Kidney Diseases/drug therapy
5.
Medicina (B.Aires) ; 78(6): 395-398, Dec. 2018. ilus, graf, tab
Article in Spanish | LILACS | ID: biblio-976136

ABSTRACT

La amiloidosis cardíaca del subtipo transtirretina (ATTR) es una cardiopatía restrictiva que causa insuficiencia cardíaca en un número considerable de pacientes. Su identificación temprana permitiría brindar tratamientos específicos. Sin embargo, el diagnóstico de ATTR es complejo y requiere métodos invasivos. Los fosfonatos marcados con 99mTecnecio han demostrado ser útiles para el diagnóstico, aunque en Argentina la experiencia es escasa. Nuestro objetivo fue evaluar la utilidad de este método para diagnosticar de forma no invasiva la ATTR. Se estudiaron 46 pacientes entre septiembre de 2016 y enero de 2018 por sospecha de amiloidosis cardíaca. Se evaluó el grado de captación cardíaca con relación al tejido óseo, a la hora, mediante dos métodos: semi-cuantitativo y cuantitativo. El diagnóstico definitivo de amiloidosis y el subtipo específico fue asignado por el centro de miocardiopatías de nuestra institución siguiendo recomendaciones internacionales. Una captación ≥ grado II presentó un valor predictivo positivo del 96% y negativo del 100% para el diagnóstico de amiloidosis cardíaca ATTR. El valor de corte de 1.38 en la relación corazón/pulmón presentó una sensibilidad del 96% y una especificidad del 100% para discriminar entre pacientes con ATTR de aquellos con amiloidosis por cadenas livianas u otras afecciones (área bajo la curva relación corazón/pulmón = 0.95 p < 0.001). La centellografía con fosfonatos marcados demostró ser un método no invasivo útil para diagnosticar ATTR. Dado que además de ser no invasiva, es una herramienta de bajo costo y ampliamente disponible en nuestro medio, su aplicación puede redundar en un beneficio clínico para muchos pacientes.


Transthyretin cardiac amyloidosis (ATTR) is a restrictive cardiomyopathy that leads to heart failure in considerable number of patients. Early diagnosis allows specific treatment options. However, ATTR diagnosis is complex and requires invasive procedures. The utility of 99mTc-phosphate tracers for non-invasive diagnosis is well-known but the experience in Argentina is insufficient. The aim of this work was to assess the utility of 99mTc-phosphate tracers for the diagnosis of ATTR. A total of 46 scintigraphies for detection of cardiac amyloidosis performed between September 2016 and January 2018 were analyzed. Cardiac retention after one hour was assessed in relation to bone uptake using two methods: A semi-quantitative visual score (grade 0 = absent, I = low II = moderate-III = high) and a quantitative method (heart/lung ratio). The final diagnosis and the amyloidosis subtype were carried out by our institution cardiomyopathy team according to international guidelines. The positive and negative predictive values for Grade ≥ II were 96% and 100% respectively for diagnosis of ATTR. Using 1.38 as cut-off value for heart/lung ratio the sensitivity and the specificity were 96% and 100%, respectively for differentiating transthyretin cardiac amyloidosis from light-chain cardiac amyloidosis and other cardiopathies. Scintigraphy with 99mTc-phosphate tracers enable noninvasive diagnosis and subtype classification of cardiac amyloidosis. The use of this non-invasive, inexpensive and widely available tool will result in better patient management.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Phosphates , Radionuclide Imaging/methods , Technetium Compounds , Amyloidosis/diagnostic imaging , Cardiomyopathies/diagnostic imaging , Predictive Value of Tests , Reproducibility of Results , Statistics, Nonparametric , Radiopharmaceuticals , Amyloidosis/physiopathology , Cardiomyopathies/physiopathology
6.
Rev. Assoc. Med. Bras. (1992) ; 64(9): 787-790, Sept. 2018. graf
Article in English | LILACS | ID: biblio-1041023

ABSTRACT

SUMMARY Cardiac amyloidosis is an infiltrative cardiomyopathy, resulting from amyloid deposition within the myocardium. In primary systemic (AL-type) amyloidosis, the amyloid protein is composed of light chains resulting from plasma-cell dyscrasia, and cardiac involvement occurs in up to 50% of the patients We present a case of a 43-year-old man, with complaints of periodical swollen tongue and xerostomia, bleeding gums and haematuria for two months. His blood results showed normocytic anaemia, thrombocytopenia and a high spontaneous INR, therefore he was referred to the Internal Medicine clinic. In the first visit, he showed signs and symptoms of overt congestive heart failure and was referred to the emergency department. The electrocardiogram showed sinus tachycardia and low voltage criteria. Echocardiography showed biventricular hypertrophy with preserved ejection fraction, restrictive physiology with elevated filling pressures, thickened interatrial septum and atrioventricular valves, small pericardial effusion and relative "apical sparing" on 2D longitudinal strain. Cardiac MRI showed diffuse subendocardial late enhancement. Serum protein electrophoresis was inconclusive, however urine analysis revealed nephrotic range proteinuria, positive Bence Jones protein and an immunofixation test with a monoclonal lambda protein band. Abdominal fat biopsy was negative for Congo red stain, nevertheless a bone marrow biopsy was performed, revealing lambda protein monoclonal plasmocytosis, confirming the diagnosis of primary systemic amyloidosis. This case represents a rare cause of heart failure in a young adult. Low-voltage QRS complexes and typical echocardiography features should raise the suspicion for cardiac amyloidosis. Prognosis is dictated by the level of cardiac involvement; therefore, early diagnosis and treatment are crucial.


RESUMO A amiloidose cardíaca corresponde a uma miocardiopatia infiltrativa, resultante do depósito da proteína amiloide no miocárdio. Na amiloidose sistêmica primária (tipo AL), a proteína amiloide é composta por cadeias leves que resultam de discrasia dos plasmócitos, havendo envolvimento cardíaco em até 50% dos doentes. Apresentamos o caso de um homem de 43 anos, com queixas de edema periódico da língua e xerostomia, hemorragia gengival e hematúria há dois meses. Analiticamente havia a destacar anemia normocítica, trombocitopenia e um INR alto espontâneo, pelo que foi referenciado à consulta de Medicina Interna. Na primeira consulta, apresentou-se com sinais de insuficiência cardíaca congestiva franca, pelo que foi referenciado ao Serviço de Urgência. O eletrocardiograma demonstrou taquicardia sinusal e critérios de baixa voltagem. O ecocardiograma revelou hipertrofia biventricular com fração de ejeção preservada, fisiologia restritiva com elevação das pressões de enchimento, espessamento do septo interauricular e das válvulas auriculoventriculares, derrame pericárdico ligeiro e padrão de apical sparing no strain longitudinal 2D. Realizou ainda ressonância magnética cardíaca, que mostrou realce tardio subendocárdico difuso. A eletroforese das proteínas foi inconclusiva, contudo a análise da urina revelou proteinúria no espectro nefrótico, presença de proteína de Bence Jones e um teste de imunofixação com uma banda monoclonal de cadeias lambda. A biópsia da gordura abdominal foi negativa. Não obstante, foi realizada uma biópsia da medula óssea, verificando-se plasmocitose monoclonal lambda, o que confirmou o diagnóstico de amiloidose primária sistêmica. Este caso representa uma causa rara de insuficiência cardíaca no jovem adulto. A baixa voltagem no eletrocardiograma e os achados ecocardiográficos típicos devem fazer suspeitar de amiloidose cardíaca. O prognóstico é ditado pelo nível de envolvimento cardíaco, motivo pelo qual o diagnóstico e o tratamento precoces são essenciais.


Subject(s)
Humans , Male , Adult , Heart Diseases/complications , Heart Failure/etiology , Amyloidosis/complications , Biopsy , Echocardiography , Electrocardiography , Heart Diseases/physiopathology , Heart Diseases/diagnostic imaging , Heart Failure/physiopathology , Heart Failure/diagnostic imaging , Amyloidosis/physiopathology , Amyloidosis/pathology , Amyloidosis/diagnostic imaging
7.
Arq. bras. cardiol ; 111(3): 384-391, Sept. 2018. tab, graf
Article in English | LILACS | ID: biblio-973761

ABSTRACT

Abstract Background: Light-chain (AL) cardiac amyloidosis (CA) is characterized by fibril deposits, which are composed of monoclonal immunoglobulin light chains. The right ventricle is mostly involved in AL-CA and impairment of its function is a predictor of worse prognosis. Objectives: To characterize the volumetric and functional properties of the right atrium (RA) in AL-CA by three-dimensional speckle-tracking echocardiography (3DSTE). Methods: A total of 16 patients (mean age: 64.5 ± 10.1 years, 11 males) with AL-CA were examined. Their results were compared to that of 15 age- and gender-matched healthy controls (mean age: 58.9 ± 6.9 years, 8 males). All cases have undergone complete two-dimensional Doppler and 3DSTE. A two-tailed p value of less than 0.05 was considered statistically significant. Results: Significant differences could be demonstrated in RA volumes respecting cardiac cycle. Total (19.2 ± 9.3% vs. 27.9 ± 10.7%, p = 0.02) and active atrial emptying fractions (12.1 ± 8.1 vs. 18.6 ± 9.8%, p = 0.05) were significantly decreased in AL-CA patients. Peak global (16.7 ± 10.3% vs. 31.2 ± 19.4%, p = 0.01) and mean segmental (24.3 ± 11.1% vs. 38.6 ± 17.6%, p =0.01) RA area strains, together with some circumferential, longitudinal and segmental area strain parameters, proved to be reduced in patients with AL-CA. Global longitudinal (4.0 ± 5.2% vs. 8.2 ± 5.5%, p = 0.02) and area (7.8 ± 8.1% vs. 15.9 ± 10.3%, p = 0.03) strains at atrial contraction and some circumferential and area strain parameters at atrial contraction were reduced in AL-CA patients. Conclusion: Significantly increased RA volumes and deteriorated RA functions could be demonstrated in AL-CA.


Resumo Fundamento: A amiloidose cardíaca (AC) de cadeias leves (AL) é caracterizada por depósitos fibrilares, que são compostos por cadeias leves de imunoglobulina monoclonal. O ventrículo direito é mais afetado pela AC-AL, e o comprometimento da sua função é preditor de um prognóstico pior. Objetivos: Caracterizar as propriedades volumétricas e funcionais do átrio direito (AD) na AC-AL por ecocardiografia tridimensional de speckle-tracking (3DSTE). Métodos: Um total de 16 pacientes (idade média: 64,5 ± 10,1 anos, 11 homens) com AC-AL foram examinados. Seus resultados foram comparados aos de 15 controles saudáveis pareados por idade e gênero (média de idade: 58,9 ± 6,9 anos, 8 homens). Todos os casos foram submetidos a Doppler bidimensional completo e 3DSTE. Um valor p bicaudal inferior a 0,05 foi considerado estatisticamente significativo. Resultados: Diferenças significativas foram demonstradas em volumes do AD com respeito ao ciclo cardíaco. O total (19,2 ± 9,3% vs. 27,9 ± 10,7%, p = 0,02) e as frações ativas de esvaziamento atrial (12,1 ± 8,1 vs. 18,6 ± 9,8%, p = 0,05) foram significativamente menores nos pacientes com AC-AL. Picos de strain no AD em áreas globais (16,7 ± 10,3% vs. 31,2 ± 19,4%, p = 0,01) e segmentares médias (24,3 ± 11,1% vs. 38,6 ± 17,6%, p = 0,01), juntamente com alguns parâmetros de strain por áreas circunferenciais, longitudinais e segmentares, mostraram-se menores em pacientes com AC-AL. Strains globais longitudinais (4,0 ± 5,2% vs. 8,2 ± 5,5%, p = 0,02) e por área (7,8 ± 8,1 vs. 15,9 ± 10,3%, p = 0,03) na contração atrial e alguns parâmetros de circunferência e de strain por área na contração atrial foram menores em pacientes com AC-AL. Conclusão: Foi possível demonstrar o aumento significativo dos volumes do AD e a deterioração de suas funções na AC-AL.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Echocardiography, Three-Dimensional/methods , Heart Atria/pathology , Heart Atria/diagnostic imaging , Heart Diseases/diagnostic imaging , Amyloidosis/pathology , Amyloidosis/diagnostic imaging , Prognosis , Reference Values , Echocardiography, Doppler/methods , Case-Control Studies , Reproducibility of Results , Risk Factors , Statistics, Nonparametric , Heart Atria/physiopathology , Heart Diseases/physiopathology , Heart Diseases/pathology , Amyloidosis/physiopathology
8.
ABC., imagem cardiovasc ; 31(3)jul.-set. 2018. ilus
Article in Portuguese | SES-SP, LILACS, SES-SP, SESSP-IDPCPROD, SES-SP | ID: biblio-909455

ABSTRACT

A amiloidose caracteriza-se pela deposição localizada ou sistêmica de proteínas com estrutura terciária instável, que se agregam e formam as fibrilas amiloidóticas. A amiloidose cardíaca é uma condição frequentemente subdiagnosticada e causa importante de insuficiência cardíaca. Existem mais de 30 tipos de proteínas amiloides conhecidas, mas somente cinco frequentemente infiltram o coração, causando a amiloidose cardíaca. São elas: imunoglobulina de cadeia leve, imunoglobulina de cadeia pesada, transtirretina, amiloide sérica A e apolipoproteína AI, sendo em sua maioria nas formas de imunoglobulina de cadeia leve ou transtirretina. De acordo com o tipo de proteína fibrilar depositado, a amiloidose cardíaca possui diferentes cursos clínicos, prognóstico e formas distintas de tratamento. Nesta revisão abordamos novas técnicas, que possibilitam o diagnóstico desta entidade, principalmente em situações de insuficiência cardíaca com fração de ejeção preservada e cardiopatias restritivas. O diagnóstico precoce é fundamental na definição da melhor abordagem terapêutica e no prognóstico desses pacientes


Subject(s)
Humans , Male , Female , Heart Failure/complications , Amyloid , Amyloidosis/physiopathology , Prognosis , Stroke Volume , Magnetic Resonance Spectroscopy/methods , Echocardiography, Doppler/methods , Radionuclide Imaging/methods , Drug Therapy/methods , Electrocardiography/methods , Immunoglobulin Light-chain Amyloidosis/physiopathology , Heart Ventricles
9.
Rev. bras. reumatol ; 57(6): 535-544, Nov.-Dec. 2017. tab, graf
Article in English | LILACS | ID: biblio-899472

ABSTRACT

Abstract Aim Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure and death. We studied clinical characteristics and survival in patients with amyloid A amyloidosis. Methods: A total of 81 patients (51 males, 30 females) with renal biopsy proven amyloid A amyloidosis were analyzed retrospectively. The patients were divided into good and poor outcomes groups according to survival results. Results: Most of the patients (55.6%) had nephrotic range proteinuria at diagnosis. Most frequent underlying disorders were familial Mediterranean fever (21.2%) and rheumatoid arthritis (10.6%) in the good outcome group and malignancy (20%) in the poor outcome group. Only diastolic blood pressure in the good outcome group and phosphorus level in the poor outcome group was higher. Serum creatinine levels increased after treatment in both groups, while proteinuria in the good outcome group decreased. Increase in serum creatinine and decrease in estimated glomerular filtration rate of the poor outcome group were more significant in the good outcome group. At the time of diagnosis 18.5% and 27.2% of all patients had advanced chronic kidney disease (stage 4 and 5, respectively). Median duration of renal survival was 65 ± 3.54 months. Among all patients, 27.1% were started dialysis treatment during the follow-up period and 7.4% of all patients underwent kidney transplantation. Higher levels of systolic blood pressure [hazard ratios 1.03, 95% confidence interval: 1-1.06, p = 0.036], serum creatinine (hazard ratios 1.25, 95% confidence interval: 1.07-1.46, p = 0.006) and urinary protein excretion (hazard ratios 1.08, 95% confidence interval: 1.01-1.16, p = 0.027) were predictors of end-stage renal disease. Median survival of patients with organ involvement was 50.3 ± 16 months. Conclusion Our study indicated that familial Mediterranean fever constituted a large proportion of cases and increased number of patients with idiopathic amyloid A amyloidosis. Additionally, it was observed that patient survival was not affected by different etiological causes in amyloid A amyloidosis.


Resumo Objetivo: A amiloidose AA é uma complicação rara de condições inflamatórias crônicas. A maior parte dos pacientes com amiloidose AA apresenta nefropatia, que leva à insuficiência renal e à morte. Estudaram-se as características clínicas e a sobrevida em pacientes com amiloidose AA. Métodos: Analisaram-se retrospectivamente 81 pacientes (51 homens, 30 mulheres) com amiloidose AA comprovada por biópsia renal. Os pacientes foram divididos em grupos de desfecho bom e ruim de acordo com os resultados de sobrevida. Resultados: A maior parte dos pacientes (55,6%) tinha proteinúria na faixa nefrótica no momento do diagnóstico. Os distúrbios subjacentes mais frequentes foram a febre familiar do Mediterrâneo (FFM, 21,2%) e a artrite reumatoide (10,6%) no grupo de desfecho bom e a malignidade (20%) no grupo de desfecho ruim. Somente a pressão arterial diastólica no grupo de desfecho bom e o nível de fósforo no grupo de desfecho ruim foram mais elevados. Os níveis séricos de creatinina aumentaram após o tratamento em ambos os grupos, enquanto a proteinúria diminuiu no grupo de desfecho bom. O aumento na creatinina sérica e a diminuição na TFGe do grupo de desfecho ruim foram mais significativos no grupo de desfecho bom. No momento do diagnóstico, 18,5% e 27,2% de todos os pacientes tinham doença renal crônica avançada (estágios 4 e 5, respectivamente). A duração média da sobrevida renal foi de 65 ± 3,54 meses. Entre todos os pacientes, 27,1% iniciaram tratamento de diálise durante o período de seguimento e 7,4% de todos os pacientes foram submetidos a transplante renal. Níveis elevados de pressão arterial sistólica [taxas de risco (HR) 1,03, intervalo de confiança (IC) de 95%: 1 a 1,06, p = 0,036], creatinina sérica (HR 1,25, IC 95%: 1,07 a 1,46, p = 0,006) e excreção urinária de proteínas (HR 1,08, IC 95%: 1,01 a 1,16, p = 0,027) foram preditores de doença renal terminal. A mediana da sobrevida de pacientes com comprometimento de órgãos foi de 50,3 ± 16 meses. Conclusão: O presente estudo indicou que a FFM constituiu uma grande proporção de casos e crescente quantidade de pacientes com amiloidose AA idiopática. Adicionalmente, observou-se que a sobrevida do paciente não foi afetada pelas diferentes causas etiológicas na amiloidose AA.


Subject(s)
Humans , Male , Female , Adult , Aged , Aged, 80 and over , Young Adult , Familial Mediterranean Fever/mortality , Renal Insufficiency, Chronic/mortality , Amyloidosis/mortality , Familial Mediterranean Fever/complications , Proteinuria/urine , Proportional Hazards Models , Retrospective Studies , Renal Dialysis/statistics & numerical data , Outcome Assessment, Health Care/statistics & numerical data , Creatinine/blood , Renal Insufficiency, Chronic/etiology , Renal Insufficiency, Chronic/physiopathology , Renal Insufficiency, Chronic/therapy , Kaplan-Meier Estimate , Amyloidosis/complications , Amyloidosis/physiopathology , Middle Aged
10.
Arq. bras. cardiol ; 109(1): 71-80, July 2017. tab, graf
Article in English | LILACS | ID: biblio-887901

ABSTRACT

Abstract Heart failure with preserved ejection fraction (HFpEF) is now an emerging cardiovascular epidemic, being identified as the main phenotype observed in clinical practice. It is more associated with female gender, advanced age and comorbidities such as hypertension, diabetes, obesity and chronic kidney disease. Amyloidosis is a clinical disorder characterized by the deposition of aggregates of insoluble fibrils originating from proteins that exhibit anomalous folding. Recently, pictures of senile amyloidosis have been described in patients with HFpEF, demonstrating the need for clinical cardiologists to investigate this etiology in suspect cases. The clinical suspicion of amyloidosis should be increased in cases of HFPS where the cardio imaging methods are compatible with infiltrative cardiomyopathy. Advances in cardio imaging methods combined with the possibility of performing genetic tests and identification of the type of amyloid material allow the diagnosis to be made. The management of the diagnosed patients can be done in partnership with centers specialized in the study of amyloidosis, which, together with the new technologies, investigate the possibility of organ or bone marrow transplantation and also the involvement of patients in clinical studies that evaluate the action of the new emerging drugs.


Resumo A insuficiência cardíaca com fração de ejeção preservada (ICFEP) é hoje uma epidemia cardiovascular emergente, sendo identificada como o principal fenótipo observado na prática clínica. Está mais associado ao sexo feminino, idade avançada e a comorbidades como hipertensão arterial, diabetes, obesidade e doença renal crônica. A amiloidose é uma desordem clínica caracterizada pelo depósito de agregados de fibrilas insolúveis originadas de proteínas que apresentam dobramento anômalo. Recentemente, têm sido descritos quadros de amiloidose senil em pacientes com ICFEP, demonstrando a necessidade de os cardiologistas clínicos investigarem esta etiologia em casos suspeitos. Deve-se aumentar a suspeição clínica de amiloidose diante dos casos de ICFEP onde os métodos de cardioimagem sejam compatíveis com o quadro de cardiomiopatia infiltrativa. Os avanços nos métodos de cardioimagem aliados à possibilidade de realização de testes genéticos e identificação do tipo do material amiloide permitem a realização do diagnóstico. O manejo dos pacientes diagnosticados pode ser feito em parceria com centros especializados no estudo de amiloidose, que, aliados às novas tecnologias, investigam a possibilidade de transplante de órgãos ou medula óssea e também o envolvimento dos pacientes em estudos clínicos que avaliam a ação das novas drogas emergentes.


Subject(s)
Humans , Stroke Volume/physiology , Heart Failure/physiopathology , Amyloidosis/physiopathology , Phenotype , Heart Failure/complications , Amyloidosis/complications , Amyloidosis/diagnosis
11.
Arq. bras. cardiol ; 90(3): 211-216, mar. 2008. ilus, graf, tab
Article in English, Portuguese | LILACS | ID: lil-479623

ABSTRACT

FUNDAMENTO: Ainda hoje os casos de amiloidose cardíaca, em sua maioria, não são diagnosticados. OBJETIVO: Revelar fatores relacionados à dificuldade no diagnóstico de amiloidose. MÉTODOS: Comparação entre os dados clínicos, eletrocardiográficos e ecocardiográficos de 17 pacientes nos quais a amiloidose foi detectada apenas à necrópsia (grupo I) e os de outros 9, nos quais a doença foi percebida em vida (grupo II). As variáveis quantitativas foram avaliadas pelo teste t e as qualitativas, pelo teste exato de Fisher, com nível de significância de p < 0,05. RESULTADOS: Houve diferenças quanto a idade (grupo I: 75,29 + 11,61 anos; grupo II: 58,67 + 11,07 anos), associação com outra doença cardíaca (grupo I: 52,94 por cento; grupo II: 0 por cento), baixa voltagem à eletrocardiografia (grupo I: 17,65 por cento; grupo II: 66,67 por cento) e disfunção diastólica à ecocardiografia (grupo I: 7,69 por cento; grupo II: 62,50 por cento). Algum grau de espessamento da parede ventricular esquerda ("hipertrofia") foi encontrado em 75 por cento dos casos de diagnóstico post-mortem e em 100 por cento dos casos in vivo, porém a espessura da parede foi menor no grupo I (parede livre: 1,20 + 0,28 cm no grupo I vs. 1,53 + 0,18 cm no grupo II). Disfunção sistólica estava presente em 57,89 por cento dos casos, sem diferença significativa entre os grupos. CONCLUSÃO: A amiloidose é diagnosticada quando os padrões clínico, eletrocardiográfico e ecocardiográfico são "típicos", mas na maioria dos casos o quadro não é assim, especialmente em idosos, em decorrência de associação com outras doenças, de falta de disfunção diastólica à ecocardiografia e de hipertrofia de grau leve.


BACKGROUND: Currently, many cases of heart amyloidosis still fail to be diagnosed. OBJECTIVE: To disclose factors related to the difficulty in attaining the diagnosis of cardiac amyloidosis. METHODS: We compared the clinical, electrocardiographic and echocardiographic data of 17 patients in whom amyloidosis was diagnosed only at the necropsy (group I) with data from 9 patients in whom the disease was diagnosed in life (group II). The quantitative variables were compared by t-test and qualitative ones by Fisher's exact test. Significance was set at p<0.05. RESULTS: The two groups showed differences regarding age (group I: 75.29 ± 11.61, group II: 58.67 ± 11.07 years), association with other cardiac disease (group I: 52.94 percent, group II: 0 percent), low voltage at the ECG (group I: 17.65 percent, group II: 66.67 percent), and diastolic dysfunction at the echocardiogram (group I: 7.69 percent, group II: 62.50 percent). Some degree of left ventricular thickening was found in 75 percent of necropsy cases and 100 percent of controls (p=0.23), but wall thickness was lower in group I (free left ventricular wall: 1.20 ± 0.28 cm versus 1.53 ± 0.18cm in group II, p=0.01). Systolic dysfunction was present in 57.89 percent of the cases, without significant difference between the groups. CONCLUSION: Amyloidosis is diagnosed when the clinical, ECG, and echocardiogram patterns are "typical", but most of the cases fail to be diagnosed, especially in elderly people, due to the association with other cardiac diseases, lack of diastolic dysfunction at the echocardiogram and only a slightly thickened ventricular wall.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Amyloidosis/diagnosis , Cardiomyopathies/diagnosis , Electrocardiography , Autopsy , Amyloidosis/complications , Amyloidosis/physiopathology , Biopsy , Cardiomyopathies/complications , Cardiomyopathies/physiopathology , Diastole , Echocardiography , Heart Failure/etiology , Heart Failure/pathology , Heart Ventricles/physiopathology , Heart Ventricles , Myocardium/pathology , Systole , Ventricular Dysfunction, Left/physiopathology , Ventricular Dysfunction, Left
12.
Tunisie Medicale [La]. 2008; 86 (9): 782-789
in French | IMEMR | ID: emr-90671

ABSTRACT

Amyloidosis is a rare infiltrative disease characterized by multiple clinical features. Various organs are involved and the cardiovascular system is a common target of amyloidosis. Cardiac involvement may occur with or without clinical manifestations and is considered as a major prognostic factor. To analyze the clinical features of cardiac involvement, to review actual knowledgement concerning echocardiographic diagnostic and to evaluate recent advances in treatment of the disease. An electronic search of the relevant literature was carried out using Medline and Pubmed. Keys words used for the final search were amyloidosis, cardiopathy and echocardiography. We considered for analysis reviews, studies and articles between 1990 and 2007. Amyloidosis represents 5 to 10% of non ischemic cardiomyopathies. Cardiac involvement is the first cause of restrictive cardiomyopathy which must be evoked. In front of every unexplained cardiopathy after the age of forty. The amyloid nature of cardiopathy is suggested if some manifestations were associated as a peripheral neuropathy, a carpal tunnel sydrome and proteinuria > 3g/day. Echocardiography shows dilated atria, a granular sparkling appearance of myocardium, diastolic dysfunction and thickened left ventricle contrasting with a low electric voltage. The proof of amyloidosis is brought by an extra-cardiac biopsy, the indications of endomyocardial biopsy are very limited. The identification of the amyloid nature of cardiopathy has a direct therapeutic implication: it indicates the use of digitalis, calcium channel blockers and beta-blockers. Today the treatment of amyloidosis remains very unsatisfactory especially in the cardiac involvement. An early diagnosis before the cardiac damage may facilitate therapy and improve prognosis


Subject(s)
Humans , Heart Diseases , Amyloidosis/physiopathology , Amyloidosis/diagnosis , Amyloidosis/therapy , Echocardiography , Electrocardiography
14.
Rev. méd. Hosp. Säo Vicente de Paulo ; 10(22): 48-50, jan.-jun. 1998. ilus
Article in Portuguese | LILACS | ID: lil-224988

ABSTRACT

O termo Amiloidose refere-se a um grupo de condiçöes clínicas caracterizadas pelo depósito de material proteico anormal no espaço extrecelular dos órgäos e tecidos. Os amiloidomas säo incomuns e näo estäo associados à amiloidose sistêmica. Define-se a amiloidose pulmonar localizada como o depósito amilóide restrito ao trato respiratório, sem deposisçäo sistêmica...


Subject(s)
Humans , Male , Aged , Amyloidosis/physiopathology , Amyloidosis/diagnosis , Amyloidosis/therapy , Diagnosis, Differential
15.
Rev. AMRIGS ; 42(2): 82-9, abr.-jun. 1998.
Article in Portuguese | LILACS | ID: lil-238316

ABSTRACT

A amiloidose é uma denominação que engloba uma série de doenças de etiologias diversas, cuja principal característica é o acúmulo de proteina fibrilar insolúvel no espaço extracelular de órgãos e tecidos. Alguns avanços na área de biologia molecular a partir de 1970 vieram esclarecer os diferentes tipos etiológicos da amiloidose...


Subject(s)
Humans , Amyloidosis/physiopathology , Amyloidosis/classification , Amyloidosis/diagnosis , Amyloidosis/epidemiology
16.
Acta AWHO ; 17(1): 6-10, jan.-mar. 1998.
Article in Portuguese | LILACS | ID: lil-209669
18.
Arch. Inst. Cardiol. Méx ; 67(4): 270-6, jul.-ago. 1997. ilus
Article in Spanish | LILACS | ID: lil-217307

ABSTRACT

La amiloidosis tiene diferentes formas de presentación clínica. La de tipo primario afecta principalmente hígado, riñón y corazón. Entre las manifestaciones cardiovasculares destacan: síndrome de restricción miocárdica con disfunción diastólica, hipotensión ortostática, arritmias, alteraciones en la conducción aurículo-ventricular y muerte súbita. Informamos un enfermo masculino de 14 años de edad con amiloidosis primaria que afecta corazón, hígado y probablemente riñón, la alteración cardiaca condicionó miocardiopatía restrictiva con disfunción diastólica y síncope. La relevancia clínica del caso es la formación de trombo gigante libre, que requirió extirpación quirúrgica y recidivó en la aurícula izquierda, a pesar de tratamiento adecuado con anticoagulación oral. Posiblemente la recidiva del trombo se debió a la alteración hemodinámica restrictiva. El enfermo falleció tres meses después en forma súbita


Subject(s)
Humans , Male , Adolescent , Amyloidosis/complications , Amyloidosis/physiopathology , Heart Atria/pathology , Cardiomyopathies/etiology , Echocardiography , Thrombosis/diagnosis , Thrombosis/etiology , Thrombosis/mortality , Thrombosis/therapy
19.
Rev. mex. reumatol ; 11(5): 171-8, sept.-oct. 1996.
Article in Spanish | LILACS | ID: lil-208155

ABSTRACT

La amiloidosis sistémica es una enfermedad infiltrante causada por el depósito extracelular de uno o varios péptidos derivados de proteínas séricas. La amiloidosis se clasifica entre las enfermedades del tejido conjuntivo. Es un padecimiento poco común cuya incidencia es de 1 en 75,000 (13 casos por millón de personas por año); además, su diagnóstico no es fácil por la sintomatología inespecífica con la que se presenta inicialmente. Se asocia con algunas enfermedades del tejido conjuntivo y se ha descrito diversos patrones de síndromes amiloideos dependiendo de la cantidad de amiloide que se deposite en los órganos afectados. Los depósitos de amiloide en el aparato musculoesquelético pueden causar sintomatología reumática como síndrome del túnel del carpo, artropatía amiloidea, tumefacciones amiloideas y artritis amiloidea relacionada con diálisis. El propósito de este artículo fue realizar una revisión de antecedentes históricos, patogenia, clasificación, síndromes amiloideos, pronóstico y tratamiento de la miloidosis


Subject(s)
Amyloidosis/classification , Amyloidosis/physiopathology , Rheumatic Heart Disease/etiology , Connective Tissue Diseases/physiopathology , Rheumatic Diseases/classification , Fatigue/etiology , Weight Loss/physiology , Amyloid beta-Peptides/physiology
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