Seguridad y efectividad del tratamiento con elexacaftor, tezacaftor e ivacaftor en adultos con fibrosis quística / Safety and effectiveness of treatment with elexacaftor, tezacaftor and ivacaftor in adults with cystic fibrosis

Introducción La fibrosis quística (FQ) es una enfermedad causada por mutaciones en el gen localizado en el cromosoma 7 que codifica la proteína reguladora de la conductancia transmembrana de la FQ. Varios ensayos han demostrado la eficacia y seguridad de la combinación ELE/TEZ/IVA en los pacientes que tienen al menos una mutación F508del. El objetivo principal del estudio fue evaluar la seguridad a los 3 y 6 meses del tratamiento con ELE/TEZ/IVA en pacientes adultos con FQ. Métodos Se trata de un estudio transversal, prospectivo y unicéntrico de vida real en el que se incluyeron pacientes adultos de la unidad multidisciplinar de FQ del Hospital Universitario Ramón y Cajal que cumplían criterios para recibir tratamiento con ELE/TEZ/IVA. Se registraron las características demográficas y clínicas de todos los pacientes. Durante el tiempo del estudio, se llevaron a cabo 3 visitas (basal, a los 3 y a los 6 meses). Se registraron los efectos secundarios y la evolución de la función hepática durante el tiempo de seguimiento. Resultados A los 3 meses del inicio del tratamiento se observó una mejoría estadísticamente significativa de la función pulmonar, el IMC, las exacerbaciones pulmonares y el nivel de energía, así como en todas las categorías del cuestionario CFQ-R excepto en el dominio digestivo. Esta mejoría se mantuvo, pero no se incrementó, a los 6 meses en todas las variables, excepto en el IMC, donde sí se observaron diferencias entre los 3 y 6 meses de tratamiento. Conclusiones En la cohorte estudiada, el tratamiento con ELE/TEZ/IVA tiene un buen perfil de seguridad y produce un mejoría precoz en la función pulmonar, el IMC, la calidad de vida y el «nivel de energía» de los pacientes adultos con FQ, que se mantiene a los 6 meses de tratamiento (AU)

Introduction Cystic fibrosis (CF) is a disease caused by mutations in the gene located on chromosome 7 that encodes the CF transmembrane conductance regulator protein. Several trials have demonstrated the efficacy and safety of the ELE/TEZ/IVA combination in patients who have at least one F508del mutation. The main objective of the study was to evaluate the safety at 3 and 6 months of treatment with ELE/TEZ/IVA in adult patients with CF. Methods This is a real-life, prospective, single-center, cross-sectional study that included adult patients from the CF multidisciplinary unit. The demographic and clinical characteristics of all patients were recorded. During the time of the study, 3 visits were carried out (baseline, at 3 and at 6 months). Side effects were recorded during the follow-up time. Results 3 months after the start of treatment, a statistically significant improvement was observed. of lung function, BMI, pulmonary exacerbations and energy level, as well as in all the categories of the CFQ-R questionnaire except in the digestive domain. This improvement was maintained, but not increased at 6 months in all variables, except BMI, where differences were observed between 3 and 6 months of treatment. Conclusions In the cohort studied, treatment with ELE/TEZ/IVA has a good safety profile. and produces an early improvement in lung function, BMI, quality of life and the “energy level” of adult patients with CF, which is maintained at 6 months of treatment (AU)

[Safety and effectiveness of treatment with elexacaftor, tezacaftor and ivacaftor in adults with cystic fibrosis]. / Seguridad y efectividad del tratamiento con elexacaftor, tezacaftor e ivacaftor en adultos con fibrosis quística.

INTRODUCTION: Cystic fibrosis (CF) is a disease caused by mutations in the gene located on chromosome 7 that encodes the CF transmembrane conductance regulator protein. Several trials have demonstrated the efficacy and safety of the ELE/TEZ/IVA combination in patients who have at least one F508del mutation. The main objective of the study was to evaluate the safety at 3 and 6 months of treatment with ELE/TEZ/IVA in adult patients with CF. METHODS: This is a real-life, prospective, single-center, cross-sectional study that included adult patients from the CF multidisciplinary unit. The demographic and clinical characteristics of all patients were recorded. During the time of the study, 3 visits were carried out (baseline, at 3 and at 6 months). Side effects were recorded during the follow-up time. RESULTS: 3 months after the start of treatment, a statistically significant improvement was observed. of lung function, BMI, pulmonary exacerbations and energy level, as well as in all the categories of the CFQ-R questionnaire except in the digestive domain. This improvement was maintained, but not increased at 6 months in all variables, except BMI, where differences were observed between 3 and 6 months of treatment. CONCLUSIONS: In the cohort studied, treatment with ELE/TEZ/IVA has a good safety profile. and produces an early improvement in lung function, BMI, quality of life and the "energy level" of adult patients with CF, which is maintained at 6 months of treatment.

Progressive pulmonary fibrosis in systemic autoimmune diseases. A real life study.

INTRODUCTION: Interstitial lung diseases associated with systemic autoimmune diseases (ILD-SAD) can progress to a fibrotic form that can benefit from antifibrotic treatment. The aim of the study is to describe a cohort of patients with ILD-SAD who manifest progressive pulmonary fibrosis treated with antifibrotics. METHODS: Single-centre retrospective observational study from a tertiary care hospital on a cohort of patients with ILD-SAD with progressive pulmonary fibrosis evaluated in a joint pulmonology and rheumatology clinic that initiated treatment with antifibrotic drugs between 01/01/2019 and 01/12/2021. Clinical characteristics were analysed. The evolution of pulmonary function test and adverse effects during treatment were described. RESULTS: 18 patients were included. The mean age was 66.7 ±â€¯12.7 years, with a higher frequency of females (66.7%). Systemic sclerosis (SS) was the most frequent systemic autoimmune disease (36.8%). The majority of patients were receiving systemic glucocorticoid treatment (88.9%), 72.2% of patients were receiving treatment with disease-modifying drugs, the most frequent being mycophenolate mofetil (38.9%), and 22.2% with rituximab. Functional stability was observed after the start of antifibrotic treatment. Two patients died during follow-up, one due to progression of ILD. CONCLUSION: Our study suggests a beneficial effect of antifibrotic treatment added to immunomodulatory treatment in patients with fibrotic ILD-SAD in real life. In our cohort, patients with ILD-SAD with progressive fibrosing involvement show functional stability after starting antifibrotic treatment. Treatment tolerance was relatively good with a side effect profile similar to that described in the medical literature.

Fibrosis pulmonar en enfermedades autoinmunes sistémicas. Un estudio en vida real / Progressive pulmonary fibrosis in systemic autoimmune diseases. A real life study

Introducción: Las enfermedades pulmonares intersticiales difusas asociadas a enfermedades autoinmunes sistémicas (EPID-EAS) pueden presentar una progresión fibrótica. El objetivo principal del estudio es describir una serie de casos de pacientes con EPID-EAS que cursan con fibrosis pulmonar progresiva e inician tratamiento con fármacos antifibróticos. Métodos: Estudio observacional retrospectivo unicéntrico de un hospital de tercer nivel sobre una serie de casos de pacientes con EPID-EAS con fibrosis pulmonar progresiva valorados en una consulta conjunta de neumología y reumatología, que iniciaron tratamiento con fármacos antifibróticos entre el 01/01/2019 y el 01/12/2021. Se analizaron las características epidemiológicas, clínicas, funcionales, radiológicas y terapéuticas al inicio del tratamiento, y la evolución funcional durante el tratamiento, así como los efectos adversos. Resultados: Se incluyeron 18 pacientes. La edad media observada fue de 66,7±12,7 años, con mayor frecuencia de sexo femenino (66,7%), siendo la esclerosis sistémica la enfermedad autoinmune sistémica más frecuente (36,8%). La mayoría de los pacientes se encontraban en tratamiento con glucocorticoides sistémicos (88,9%), un 72,2% de pacientes con fármacos modificadores de la enfermedad, siendo el más frecuente el micofenolato mofetilo (38,9%), y un 22,2% con rituximab. Se observó una estabilidad funcional tras el inicio del tratamiento antifibrótico. Fallecieron 2 pacientes durante el seguimiento, uno de ellos como consecuencia de la progresión de la enfermedad intersticial pulmonar. Conclusión: Nuestro estudio sugiere un efecto beneficioso del tratamiento antifibrótico añadido al tratamiento inmunomodulador en pacientes con EPID-EAS fibrótica en vida real. En nuestra serie de casos, los pacientes con EPID-EAS con afectación fibrosante progresiva muestran una estabilidad funcional tras el inicio del tratamiento antifibrótico...(AU)

Introduction: Interstitial lung diseases associated with systemic autoimmune diseases (ILD-SAD) can progress to a fibrotic form that can benefit from antifibrotic treatment. The aim of the study is to describe a cohort of patients with ILD-SAD who manifest progressive pulmonary fibrosis treated with antifibrotics. Methods: Single-centre retrospective observational study from a tertiary care hospital on a cohort of patients with ILD-SAD with progressive pulmonary fibrosis evaluated in a joint pulmonology and rheumatology clinic that initiated treatment with antifibrotic drugs between 01/01/2019 and 01/12/2021. Clinical characteristics were analysed. The evolution of pulmonary function test and adverse effects during treatment were described. Results: 18 patients were included. The mean age was 66.7±12.7 years, with a higher frequency of females (66.7%). Systemic sclerosis (SS) was the most frequent systemic autoimmune disease (36.8%). The majority of patients were receiving systemic glucocorticoid treatment (88.9%), 72.2% of patients were receiving treatment with disease-modifying drugs, the most frequent being mycophenolate mofetil (38.9%), and 22.2% with rituximab. Functional stability was observed after the start of antifibrotic treatment. Two patients died during follow-up, one due to progression of ILD. Conclusion: Our study suggests a beneficial effect of antifibrotic treatment added to immunomodulatory treatment in patients with fibrotic ILD-SAD in real life. In our cohort, patients with ILD-SAD with progressive fibrosing involvement show functional stability after starting antifibrotic treatment. Treatment tolerance was relatively good with a side effect profile similar to that described in the medical literature.(AU)

Acute Dyspnea and Hemoptysis in an 84-Year-Old Man With Multiple Comorbidities.

CASE PRESENTATION: An 84-year-old man with an active smoking habit presented to the ED with dyspnea, hemoptysis, and thick phlegm that was difficult to clear. He reported no weight loss, no fever, and no chest pain or dysphonia. He denied both international travel and previous contact with confirmed cases of TB or SARS-CoV-2. He had no known occupational exposures. The patient's personal history included a resolved complete atrioventricular block that required a permanent pacemaker, moderate-to-severe COPD, rheumatoid arthritis (treated with oral prednisone, 2.5 mg/d) and B-chronic lymphocytic leukemia (treated with methotrexate and prophylactic oral supplements of ferrous sulfate). Moreover, he was in medical follow up because of a peptic ulcer, atrophic gastritis, and colonic diverticulosis. The patient also had a history of thoracic surgery after an episode of acute mediastinitis from an odontogenic infection, which required ICU management and temporal tracheostomy.