Angiomiolipoma renal y complejo esclerosis tuberosa: resultados a largo plazo en seguridad y eficacia de terapia con everolimus / Renal angiomyolipoma and tuberous sclerosis complex: long-term safety and efficacy outcomes of Everolimus therapy

Introducción: El angiomiolipoma renal (AMLr) es una manifestación frecuente del complejo de esclerosis tuberosa (CET), estableciéndose, recientemente, el tratamiento con everolimus, como opción terapeútica novedosa, alternativa y no invasiva; sin embargo, existen datos limitados en la vida real y a largo plazo, por ello, el análisis de nuestra experiencia, en materia de seguridad y eficacia, aporta un valor añadido.Material y métodosSe realiza un análisis descriptivo de nuestra experiencia en pacientes con AMLr bilaterales gigantes, en el contexto de CET, tratados con 10 mg por vía oral de everolimus diario, durante una mediana de 71,5 meses. Evaluamos los parámetros como: tasa y duración de la respuesta; reducción del volumen renal y las lesiones; prevención de complicaciones, toxicidad presentada y causa.ResultadosConfirmamos la efectividad del tratamiento en cuatro pacientes jóvenes, con AMLr renales bilaterales, múltiples, de 12 (5 a 19) cm de diámetro máximo como mediana, desde junio del 2013 hasta la actualidad, con una reducción continua del tamaño de las lesiones, descenso del 30% del volumen, en el 75% al sexto mes y del 50% en la mitad de los sujetos después dos años, permaneciendo aún en respuesta. No se presentaron complicaciones como sangrado o deterioro del filtrado glomerular a largo plazo, con un perfil de seguridad favorable, sin interrupciones y con efectos adversos no acumulativos leves a moderados, en su mayoría durante el primer año de tratamiento.ConclusiónEverolimus es una opción terapéutica segura y eficaz para el AMLr y para diversas manifestaciones del CET, que se reproduce en la vida real, con seis años de seguimiento. (AU)

Introduction: Renal angiomyolipoma is a frequent manifestation of Tuberous Sclerosis Complex (TSC), for which everolimus therapy has been recently established as a novel non-invasive therapeutic option. As there are limited real life and long-term data, the analysis of our experience provides added value in terms of safety and efficacy.Material and methodsDescriptive analysis of our experience in patients with giant bilateral renal angiomyolipomas, in the context of TSC, treated with 10 mg oral everolimus daily, during a median of 71.5 months. We evaluated the following parameters: response rate and duration, reduction of kidney size and lesions, prevention of complications and presentation of toxicity and its cause.ResultsWe confirm the effectiveness of treatment in 4 young patients, with multiple, bilateral angiomyolipomas of a median of 12 (5-19) cm maximum diameter, from June 2013 to date, after continuous reduction in lesion size, a decrease of 30% of the volume in 75% at six months and 50% in half of the subjects at two years, still showing drug response. Absence of complications such as bleeding or glomerular filtration rate decline in the long term, with a favorable safety profile, without interruptions and with mild-moderate, non-cumulative adverse effects, mostly within the first year of treatment.ConclusionEverolimus is a safe and effective therapeutic option for renal angiomyolipoma and various manifestations of TSC, which has been reproduced in real life with six years of follow-up. (AU)

Renal angiomyolipoma and tuberous sclerosis complex: long-term safety and efficacy outcomes of Everolimus therapy. / Angiomiolipoma renal y complejo esclerosis tuberosa: resultados a largo plazo en seguridad y eficacia de terapia con everolimus.

INTRODUCTION: Renal angiomyolipoma is a frequent manifestation of Tuberous Sclerosis Complex (TSC), for which everolimus therapy has been recently established as a novel non-invasive therapeutic option. As there are limited real life and long-term data, the analysis of our experience provides added value in terms of safety and efficacy. MATERIAL AND METHODS: Descriptive analysis of our experience in patients with giant bilateral renal angiomyolipomas, in the context of TSC, treated with 10 mg oral everolimus daily, during a median of 71.5 months. We evaluated the following parameters: response rate and duration, reduction of kidney size and lesions, prevention of complications and presentation of toxicity and its cause. RESULTS: We confirm the effectiveness of treatment in 4 young patients, with multiple, bilateral angiomyolipomas of a median of 12 (5-19) cm maximum diameter, from June 2013 to date, after continuous reduction in lesion size, a decrease of 30% of the volume in 75% at six months and 50% in half of the subjects at two years, still showing drug response. Absence of complications such as bleeding or glomerular filtration rate decline in the long term, with a favorable safety profile, without interruptions and with mild-moderate, non-cumulative adverse effects, mostly within the first year of treatment. CONCLUSION: Everolimus is a safe and effective therapeutic option for renal angiomyolipoma and various manifestations of TSC, which has been reproduced in real life with six years of follow-up.