Concordance between referral and final diagnoses of pediatric patients with vascular malformations.

BACKGROUND: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification. METHODS: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis. RESULTS: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively). CONCLUSIONS: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

INTRODUCCIÓN: Las malformaciones vasculares (MVa) son un grupo heterogéneo de trastornos resultantes de la dismorfogénesis de los vasos sanguíneos. A pesar de que la correcta clasificación es relevante para brindar un adecuado tratamiento de acuerdo con la medicina basada en la evidencia, la terminología diagnóstica podría resultar confusa o utilizarse de manera inapropiada. MÉTODOS: En este estudio retrospectivo se midieron el acuerdo y la concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos finales confirmados de 435 pacientes pediátricos con MVa recién remitidos a la Clínica de anomalías vasculares (CAV) multidisciplinaria, mediante el análisis de concordancia kappa de Fleiss (κ). RESULTADOS: Se encontró una buena concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos confirmados de MVa (κ 0.306, p < 0.001). Las malformaciones linfáticas (LM) y las MVa asociadas con otras anomalías presentaron concordancias diagnósticas moderadas (κ 0.593, p < 0.001 y κ 0.469, p < 0.001, respectivamente). CONCLUSIONES: Se requiere de estrategias de educación médica continua para mejorar el conocimiento de los médicos y la precisión diagnóstica de los pacientes con MVa.

Concordance between referral and final diagnoses of pediatric patients with vascular malformations / Concordancia entre el diagnostico de referencia y final de pacientes pediátricos con malformaciones vasculares

Abstract Background: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification. Methods: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis. Results: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively). Conclusions: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

Resumen Introducción: Las malformaciones vasculares (MVa) son un grupo heterogéneo de trastornos resultantes de la dismorfogénesis de los vasos sanguíneos. A pesar de que la correcta clasificación es relevante para brindar un adecuado tratamiento de acuerdo con la medicina basada en la evidencia, la terminología diagnóstica podría resultar confusa o utilizarse de manera inapropiada. Métodos: En este estudio retrospectivo se midieron el acuerdo y la concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos finales confirmados de 435 pacientes pediátricos con MVa recién remitidos a la Clínica de anomalías vasculares (CAV) multidisciplinaria, mediante el análisis de concordancia kappa de Fleiss (κ). Resultados: Se encontró una buena concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos confirmados de MVa (κ 0.306, p < 0.001). Las malformaciones linfáticas (LM) y las MVa asociadas con otras anomalías presentaron concordancias diagnósticas moderadas (κ 0.593, p < 0.001 y κ 0.469, p < 0.001, respectivamente). Conclusiones: Se requiere de estrategias de educación médica continua para mejorar el conocimiento de los médicos y la precisión diagnóstica de los pacientes con MVa.

The use of mTOR inhibitors for the treatment of kaposiform hemangioendothelioma. A systematic review.

BACKGROUND: Kaposiform hemangioendothelioma (KHE) is a locally aggressive and potentially lethal vascular tumor of infancy. Current consensus recommendations include the use of vincristine and/or systemic steroids as first-line treatment. Mammalian target of rapamycin (mTOR) inhibitors represent a promising therapy for patients with KHE. The goal of our study is to critically assess the existing literature on outcomes of patients with KHE treated with mTOR inhibitors. METHODS: We conducted a literature search from 1 January 2000, to 30 April 2022. Articles reporting outcomes of patients treated with mTOR inhibitors for KHE were included. Descriptive statistics were used to describe and summarize the outcomes of the treatment. RESULTS: We included 327 patients with a mean age at diagnosis of 9.1 months (SD ± 9). Patients were treated with an mTOR inhibitor for a mean of 15.2 months (SD ± 4.1). A total of 315 (96.3%) patients had positive outcomes including improvement of the tumor size, symptoms and/or laboratory parameters in 227 (85%) and complete remission in 38 (12%). Seven (2%) patients did not respond to treatment and seven (2%) died of sepsis (4), Kasabach-Merritt phenomenon complications (1), cardiac and liver failure due to ductus arteriosus (1), or metastatic disease (1). CONCLUSION: This systematic review supports the efficacy and safety of mTOR inhibitors for KHE. Their use resulted in positive outcomes in terms of decreased symptoms, reduction in tumor size and improvement in biochemical parameters with a mortality rate of 2%. According to these findings, we suggest revised consensus treatment guidelines for KHE with mTOR inhibitors potentially considered first-line therapy.