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.

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.