ABSTRACT
Among myositis-specific antibodies, anti-melanoma differentiation-associated gene 5 (anti-MDA5) is one of the antibodies with a unique spectrum that is expressed principally in clinically amyopathic dermatomyositis (CADM) and, to a lesser extent, in dermatomyositis (DM). In addition to muscle and classical skin involvement, patients with anti-MDA5 DM/CADM are characterized by the expression of rapidly progressive interstitial lung diseases, vasculopathic lesions, and non-erosive arthritis. Although cardiac involvement has been described in other inflammatory myopathies, such as myocarditis, pericarditis, and conduction disorders, in anti-MDA5 DM/CADM patients, heart disease is infrequent. We report a case of a young male presenting with constitutional symptoms, polyarthritis, skin ulcers, and mild muscle weakness who developed an episode of high ventricular rate atrial fibrillation during his hospitalization. The anti-MDA5 DM diagnosis was supported by increased muscular enzymes, positive anti-MDA5 and anti-Ro52 antibodies, and the presence of organizing pneumonia. He was treated with high-dose glucocorticoids, rituximab, and beta-blocker drugs and received pharmacological cardioversion, which improved his myopathy symptoms and stabilized his heart rhythm. Here, we describe eight similar cases of anti-MDA5 DM/CADM with cardiac involvement. The case presented and the literature reviewed reveal that although rare, physicians must be aware of cardiac disease in patients with suggestive symptoms to guarantee early assessment and treatment, thereby reducing life-treating consequences.
Subject(s)
Dermatomyositis , Myositis , Humans , Male , Autoantibodies , Dermatomyositis/diagnosis , Interferon-Induced Helicase, IFIH1ABSTRACT
Introducción. La asociación entre SARS-CoV-2 y hepatopatías crónicas ha sido descrita mundial-mente con cohortes que reportan hasta un 11 % de pacientes hospitalizados con cirrosis hepática o trasplante hepático. Datos publicados reportan un aumento de la mortalidad en este grupo de pacientes. El objetivo de este estudio fue evaluar los desenlaces de mortalidad, necesidad de estan-cia en UCI y de ventilación mecánica, en pacientes hospitalizados por neumonía por SARS-CoV-2 e historia de hepatopatía crónica, con o sin antecedente de trasplante hepático. Metodología. Se realizó un estudio de cohorte observacional retrospectivo en un centro de referencia en trasplante hepático, con pacientes adultos hospitalizados por COVID-19 y antecedente de hepatopatía cróni-ca, trasplantados y no trasplantados. Resultados. Se incluyeron 100 pacientes, de ellos 42 pacien-tes (42 %) habían sido receptores de trasplante hepático. En el análisis al comparar trasplantados versus no trasplantados, se encontró mortalidad por cualquier causa 14 % versus 31 % (OR 0,37; IC95% 0,13-1,03), muerte por COVID-19 14 % versus 29 % (OR 0,52; IC95% 0,18-1,50), reque-rimiento de hospitalización en UCI 30 % versus 29 % (OR 1,48; IC95% 0,57-3,79) y ventilación mecánica 14 % versus 29 % (OR 1,53; IC95% 0,42-3,06), respectivamente. Conclusiones. Los resultados de este estudio sugieren que no hubo un incremento en el riesgo de mortalidad, necesi-dad de estancia en UCI o ventilación mecánica en los pacientes con antecedente de hepatopatía crónica, trasplantados y no trasplantados, que tenían neumonía por SARS-CoV-2.
Introduction. The association between SARS-CoV-2 and chronic liver disease has been described worldwide with cohorts reporting up to 11% of patients hospitalized with liver cirrhosis or liver transplantation. Published data has reported an increase in mortality in this group of patients. The objective of this study was to evaluate the outcomes of mortality, need for ICU stay and mechani-cal ventilation, in hospitalized transplanted and non-transplanted patients with history of chronic liver disease, who had SARS-CoV-2 pneumonia. Methodology. A retrospective cohort study was conducted in a liver transplant reference center with adult patients hospitalized for COVID-19 with a history of chronic liver disease either transplanted or not transplanted. A univariate analysis was performed to assess the outcomes of interest. Results. One hundred patients were included, of which 42 patients (42%) were liver transplant recipients. In the analysis comparing transplanted versus non-transplanted, mortality from any cause was 14% versus 31% (OR 0.37; 95% CI 0.13-1.03), death from COVID-19 14% versus 29% (OR 0.52; 95% CI 0.18-1.50), ICU hospitalization requirement 30% versus 29% (OR 1.48; 95% CI 0.57-3.79) and mechanical ventilation 14% versus 29% (OR 1.53; 95% CI 0.42-3.06), respectively. Conclusions. The results of this study suggest that there was no increased risk of mortality, need for ICU stay, or mechanical ventilation in transplanted and non-transplanted patients with a history of chronic liver disease who had SARS-CoV-2 pneumonia.
Subject(s)
Humans , Adult , Middle Aged , AgedABSTRACT
La hemocromatosis hereditaria es una enfermedad que se caracteriza por la sobrecarga sistémica de hierro y se asocia a múltiples mutaciones genéticas que conducen a una producción inadecuadamente baja de la hormona hepcidina o a una alteración en la unión de la hepcidina a la ferroportina. Esto tiene como resultado un aumento de la absorción intestinal y el depósito de cantidades excesivas de hierro en las células, lo cual, a su vez, si no se corrige, genera daño tisular. La expresión clínica puede variar desde individuos completamente asintomáticos, hasta pacientes con cirrosis hepática a temprana edad, y eventualmente carcinoma hepatocelular. Habitualmente, el diagnóstico no es invasivo e incluye el examen clínico, la evaluación de los parámetros de hierro plasmático, imágenes y pruebas genéticas. El principal tratamiento es la flebotomía, pero terapias alternativas como la suplementación con hepcidina son un tema de investigación actual.
Hereditary hemochromatosis is a disease characterized by systemic iron overload of genetic origin, that leads to an inadequately low production of the hormone hepcidin or a reduction in hepcidinferroportin binding. This results in an increased intestinal absorption and the deposit of excessive amounts of iron in cells, which in turn results in tissue damage if not treated. The clinical expression can vary from completely asymptomatic individuals, to patients with liver cirrhosis at an early age, and eventually hepatocellular carcinoma. Diagnosis is usually noninvasive and includes clinical examination, assessment of plasma iron levels, imaging studies, and genetic testing. The main medical treatment is phlebotomy, but alternative therapies such as hepcidin supplementation are the subject of current research.
