Estudio descriptivo de la amiloidosis por transtiretina en un hospital de tercer nivel sin unidad de referencia / A descriptive study of transthyretin amyloidosis in a tertiary hospital without a referral unit

Antecedentes y objetivo: La amiloidosis por transtiretina (ATTR) es una enfermedad rara que forma parte de las amiloidosis sistémicas, y es una enfermedad amenazante para la vida. Puede afectar a todos los órganos y sistemas, siendo la más frecuente la afectación neurológica y cardíaca. El objetivo de este estudio es detectar posibles casos de ATTR y realizar un estudio descriptivo de los mismos. Material y métodos: Estudio descriptivo unicéntrico realizado en un hospital de tercer nivel en el que se incluyen pacientes con sospecha de ATTR entre septiembre de 2016 y enero de 2020. Resultados: Se detectan 190 pacientes sospechosos de ATTR. En el estudio se incluyen 100 de ellos, así como 10 familiares de pacientes en los que se detecta ATTR en su variante genética. En total, se detecta ATTR variante genética en 7 individuos (3 con mutación presintomática de la enfermedad), 16 pacientes con ATTR asociada a la edad y 31 individuos con amiloidosis cardíaca no filiada con las pruebas realizadas, lo que confirma la presencia de esta enfermedad en áreas no endémicas. Conclusiones: La ATTR es una enfermedad que se ha de tener en cuenta en el diagnóstico diferencial de pacientes que presentan insuficiencia cardíaca con FEVI preservada, principalmente si se asocia a síntomas neurológicos (AU)

Background and objective: Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. Material and methods: Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. Results: A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. Conclusions: ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms (AU)

A descriptive study of transthyretin amyloidosis in a tertiary hospital without a referral unit.

BACKGROUND AND OBJECTIVE: Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. MATERIAL AND METHODS: Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. RESULTS: A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. CONCLUSIONS: ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms.

Prognostic value of multimodal assessment of congestion in acute heart failure.

BACKGROUND: A physical examination has limited performance in estimating systemic venous congestion and predicting mortality in patients with heart failure. We have evaluated the usefulness of the N-terminal prohormone of brain natriuretic peptide (NT-proBNP), cancer antigen 125 (CA125), lung ultrasound findings, relative plasma volume (rPV) estimation, and the urea/creatinine ratio as surrogate parameters of venous congestion and predictors of mortality. METHODS: This work is a retrospective study of 203 patients admitted for acute heart failure in a tertiary hospital's internal medicine department with follow-up in a specialized outpatient clinic between 2013 and 2018. Clinical data were collected from hospital records. Treatment was decided upon according to the clinical judgment of each patient's attending physician. The main outcome measure was all-cause mortality at one year of follow-up. RESULTS: Patients' mean age was 78.8 years and 47% were male. A total of 130 (65%) patients had chronic heart failure, 51 (26.2%) patients were in New York Heart Association class III-IV, and 116 (60%) patients had preserved left ventricular ejection fraction. During follow-up, 42 (22%) patients died. Values of NT-proBNP≥3804pg/mL (HR 2.78 [1.27-6.08]; p=.010) and rPV≥-4.54% (HR 2.74 [1.18-6.38]; p=.019) were independent predictors of all-cause mortality after one year of follow-up. CONCLUSIONS: NT-proBNP and rPV are independent predictors of one-year mortality among patients hospitalized for decompensated heart failure.

Valor pronóstico de la valoración multimodal de la congestión en la insuficiencia cardiaca aguda / Prognostic value of multimodal assessment of congestion in acute heart failure

Fundamento El examen físico presenta una rentabilidad limitada en la estimación de la congestión venosa sistémica y en la predicción de la mortalidad de los pacientes con insuficiencia cardiaca. Hemos evaluado la utilidad del fragmento amino terminal del péptido natriurético cerebral (NT-proBNP), del antígeno de cáncer 125 (CA125), los hallazgos de la ecografía pulmonar, la estimación del volumen plasmático relativo (VPr) y el cociente urea/creatinina, como parámetros subrogados de congestión venosa y predictores de mortalidad. Material y métodos Estudio retrospectivo de 203 pacientes ingresados por insuficiencia cardiaca aguda en el servicio de medicina interna de un hospital terciario, con seguimiento monográfico en consultas externas entre los años 2013 y 2018. Los datos clínicos se recogieron de los registros hospitalarios. Las intervenciones terapéuticas se guiaron por el criterio clínico del médico responsable de cada paciente. El desenlace principal fue mortalidad general tras un año de seguimiento. Resultados La edad media de los pacientes fue 78,8 años, 47% eran varones. Un total de 130 (65%) pacientes presentaban insuficiencia cardiaca crónica, 51 (26,2%) pacientes se encontraban en clase III-IV de la New York Heart Association y 116 (60%) pacientes presentaban fracción de eyección de ventrículo izquierdo preservada. Durante el seguimiento fallecieron 42 (22%) pacientes. Los valores de NT-proBNP≥3.804pg/mL (HR 2,78 [1,27-6,08]; p=0,010) y el VPr≥–4,54% (HR 2,74 [1,18-6,38]; p=0,019) fueron predictores independientes de mortalidad general tras un año de seguimiento. Conclusiones El NT-proBNP y el VPr son predictores independientes de mortalidad a un año entre los pacientes ingresados por insuficiencia cardiaca descompensada (AU)

Background A physical examination has limited performance in estimating systemic venous congestion and predicting mortality in patients with heart failure. We have evaluated the usefulness of the N-terminal prohormone of brain natriuretic peptide (NT-proBNP), cancer antigen 125 (CA125), lung ultrasound findings, relative plasma volume (rPV) estimation, and the urea/creatinine ratio as surrogate parameters of venous congestion and predictors of mortality. Methods This work is a retrospective study of 203 patients admitted for acute heart failure in a tertiary hospital's internal medicine department with follow-up in a specialized outpatient clinic between 2013 and 2018. Clinical data were collected from hospital records. Treatment was decided upon according to the clinical judgment of each patient's attending physician. The main outcome measure was all-cause mortality at one year of follow-up. Results Patients’ mean age was 78.8 years and 47% were male. A total of 130 (65%) patients had chronic heart failure, 51 (26.2%) patients were in New York Heart Association class III-IV, and 116 (60%) patients had preserved left ventricular ejection fraction. During follow-up, 42 (22%) patients died. Values ??of NT-proBNP≥3,804pg/mL (HR 2.78 [1.27-6.08]; p=.010) and rPV ≥–4.54% (HR 2.74 [1.18-6.38]; p=.019) were independent predictors of all-cause mortality after one year of follow-up. Conclusions NT-proBNP and rPV are independent predictors of one-year mortality among patients hospitalized for decompensated heart failure (AU)

Prognostic value of multimodal assessment of congestion in acute heart failure. / Valor pronóstico de la valoración multimodal de la congestión en la insuficiencia cardiaca aguda.

Systemic venous congestion is present in most cases of acute decompensated heart failure (ADHF). An accurate assessment of congestion is key to improve outcomes and avoid residual congestion. Physical examination has limitations for grading congestion; hence, new methods for assessing congestion have been developed. A multimodal approach, combining surrogate markers of congestion, may be a suitable strategy. The aim of this study was to compare the prognostic value of Amino terminal fragment of pro-Brain Natriuretic Peptide (NT-proBNP), Carbohydrate cancer antigen 125 (CA125), lung ultrasound, relative plasma volume status (rPVS) and urea/Creatinine ratio (U/C ratio), to predict one-year all-cause mortality. MATERIAL AND METHODS: Retrospective, observational analysis of 203 patients admitted at the Internal Medicine ward of a tertiary teaching Hospital due to ADHF, followed in monographic outclinic. Clinical data were obtained from hospital records. Therapeutic interventions followed exclusively the clinical judgement of the physician responsible for each patient. RESULTS: 203 patients were included for the final analysis between 2013 and 2018. Chronic heart failure (CHF) was present in 130 patients (65%); 51 patients (26.2%) had class III-IV of New York Heart Association (NYHA); 116 patients (60%) had HF with preserved ejection fraction (HFpEF). Forty-two patients (21.6%) died during follow-up. NT-proBNP≥3804 pg/mL (HR 2.78 [1.27 - 6.08]; P=.010) and rPVS≥-4.54% (HR 2.74 [1.18 - 6.38]; P=.019), were independent predictors for 1-year all-cause mortality on top of CA125, lung ultrasound and U/C ratio. CONCLUSIONS: NT-proBNP and rPVS are independent predictors of one-year mortality among patients admitted for ADHF.

Presentación atípica de amiloidosis por transtiretina en un área no endémica / Atypical presentation of transthyretin amyloidosis in a non-endemic area

Antecedente y objetivo: Existen 2 tipos de amiloidosis producidas por depósitos de transtiretina, el tipo salvaje (wt-ATTR) y el tipo mutante (m-ATTR), transmitido por herencia autosómica dominante con penetrancia variable, manifestándose con clínica neurológica y/o cardíaca. Describimos 3 familias afectadas por m-ATTR diagnosticadas en un área no endémica. Material y métodos: Se estudiaron 63 pacientes con alta sospecha de amiloidosis TTR. Posteriormente, el diagnóstico se realizó por amplificación mediante PCR de ADN y en los casos positivos se estudiaron a los familiares de primer grado. Resultados: Se detectaron 7 casos positivos para m-ATTR, distribuidos en 3 familias (Glu74Gln, Val142Ile en heterocigosis y Val142Ile en homocigosis) y 3 casos de variantes no patogénicas. Conclusiones: La amiloidosis hereditaria por TTR es una enfermedad rara, pero presente en áreas no endémicas, por lo que debe tenerse en cuenta en el diagnóstico diferencial de los pacientes con polineuropatía y/o insuficiencia cardiaca con fracción de eyección preservada

Background and objective: There are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. Material and methods: We studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA. For the positive cases, we studied the first-degree relatives. Results: We detected 7 positive cases of m-ATTR, distributed among 3 families (Glu74Gln, Val142Ile in heterozygosity and Val142Ile in homozygosity), and 3 cases of nonpathogenic variants. Conclusions: Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction

Atypical presentation of transthyretin amyloidosis in a non-endemic area. / Presentación atípica de amiloidosis por transtiretina en un área no endémica.

BACKGROUND AND OBJECTIVE: There are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. MATERIAL AND METHODS: We studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA. For the positive cases, we studied the first-degree relatives. RESULTS: We detected 7 positive cases of m-ATTR, distributed among 3 families (Glu74Gln, Val142Ile in heterozygosity and Val142Ile in homozygosity), and 3 cases of nonpathogenic variants. CONCLUSIONS: Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction.

Bronconeumonia bilateral por Rothia mucilaginos / Bilateral bronchopneumonia due to Rothia mucilaginosa

Rothia mucilaginosa (R. mucilaginosa), antiguamente denominada Stomatococcus mucilaginosus, es un coco Gram positivo capsulado, anaerobio facultativo, que forma parte de la flora orofaríngea normal y raramente se considera patógeno en pacientes inmunocompetentes, aunque puede producir, de forma poco habitual, infecciones graves como bacteriemias, endocarditis e infecciones respiratorias: neumonías, empiemas pleurales o sobreinfección de bronquiectasias. Presentamos el caso de un varón de 74 años diagnosticado de neumonía basal derecha de evolución tórpida con mala respuesta inicial a diversos antibióticos, con empeoramiento clínico y radiológico y aparición de bronconeumonia bilateral con imágenes pseudonodulares. En 3 cultivos de esputos y en broncoaspirado se aisló R. mucilaginosa en cultivo puro. Finalmente fue tratado con Linezolid con buena respuesta clínica y normalización de la radiografía de tórax, comprobando la desaparición de R. mucilaginosa en posteriores cultivos de esputos. Existen pocos casos documentados de neumonía por R. mucilaginosa por lo que consideramos de interés presentar éste (AU)

Rothia mucilaginosa (R. mucilaginosa), formerly named Stomatococcus mucilaginosus, is a facultatively anaerobic, encapsulated gram-positive coccus, which forms part of the normal oropharyngeal and is rarely considered to be a pathogen in immunocompetent patients, although it can produce, on rare occasions, serious infections like bacteremia, endocarditis and respiratory infections; such as pneumonia, pleural empyema or superinfection of bronchiectasis. We present the case of a 74-year-old male diagnosed with right basal pneumonia of torpid evolution with poor initial response to different antibiotics, with clinical and radiological worsening and the appearance of bilateral bronchopneumonia with pseudonodular images. R. mucilaginosa in pure culture was isolated in three sputum cultures and in bronchial suction. The patient was finally treated with Linezolid with good clinical response and normalisation of the thorax radiography, confirming the disappearance of R. mucilaginosa in subsequent sputum cultures. As there are few documented cases of pneumonia due to R. mucilaginosa, we believe that presenting this case will be of interest (AU)

[Bilateral bronchopneumonia due to Rothia mucilaginosa]. / Bronconeumonia bilateral por Rothia mucilaginosa.

Rothia mucilaginosa (R. mucilaginosa), formerly named Stomatococcus mucilaginosus, is a facultatively anaerobic, encapsulated gram-positive coccus, which forms part of the normal oropharyngeal and is rarely considered to be a pathogen in immunocompetent patients, although it can produce, on rare occasions, serious infections like bacteremia, endocarditis and respiratory infections; such as pneumonia, pleural empyema or superinfection of bronchiectasis. We present the case of a 74-year-old male diagnosed with right basal pneumonia of torpid evolution with a poor initial response to different antibiotics, with clinical and radiological worsening and the appearance of bilateral bronchopneumonia with pseudonodular images. R. mucilaginosa in pure culture was isolated in three sputum cultures and in bronchial suction. The patient was finally treated with Linezolid with a good clinical response and normalisation of the thorax radiography, confirming the disappearance of R. mucilaginosa in subsequent sputum cultures. As there are few documented cases of pneumonia due to R. mucilaginosa, we believe that presenting this case will be of interest.