ABSTRACT
Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins. As a result, abnormal metabolites accumulate in the organelle, leading to dysfunction. Therapeutic advances, including early diagnosis and disease-targeted management, have improved the life expectancy and quality of life of people affected by certain LSDs. To access these new interventions, LSDs must be considered in patients presenting with hepatomegaly and splenomegaly throughout the lifespan. This review article navigates the diagnostic approach for individuals with hepatosplenomegaly particularly focusing on LSDs. We provide hints in the history, physical exam, laboratories, and imaging that may identify LSDs. Additionally, we discuss molecular testing, arguably the preferred confirmatory test (over biopsy), accompanied by enzymatic testing when feasible.
ABSTRACT
Objetivo: Determinar la efectividad del tratamiento con Albendazol de larga y corta duración en adultos y niños con neurocisticercosis parenquimatosa cística o transicional, verificado por neuroimagen. Materiales y métodos: Un metaanálisis fue realizado analizando los ensayos clínicos de Medline y LILACS con un puntaje de Jadad > 2. Estudios adicionales no fueron identificados en Clinicaltrials.gov y Researchgate. La variable principal fue la persistencia de las lesiones radiológicas y la secundaria los efectos adversos. El RR acumulado y un intervalo de confianza del 95 % fueron calculados para las dos variables usando el modelo de efectos fijos de Mantel-Haenszel. El análisis fue realizado en el programa Stata 11. La heterogeneidad fue evaluada con el prueba chi cuadrado, una p < 0,10 fue considerada estadísticamente significativa. El sesgo de publicación fue evaluado por el análisis de sensibilidad y la prueba de Egger. Resultados: Cuatro estudios fueron incluidos. No hay diferencia entre la terapia de larga y corta duración para la neurocisticercosis. El RR acumulado de la persistencia de lesiones radiológicas después del tratamiento a corto plazo en comparación al de largo plazo fue 1,05 (IC 95 % 0,72-1,54). La prueba de Mantel-Haenszel demostró un valor de p de 0,789. Además, ambos, el análisis de sensibilidad y la prueba de Egger apoyaron la ausencia de sesgo de publicación. No hubo diferencia significativa respecto a los efectos adversos. Conclusiones: La evidencia sugiere que no hay diferencia entre el tratamiento de corto y largo plazo para las lesiones parenquimatosas transicionales únicas, por lo que el tratamiento de corto plazo puede ser usado efectivamente.
Objective: To determine the effectiveness of long- and short-term albendazole therapy in adults and children with cystic and transitional parenchymal neurocysticercosis confirmed by neuroimaging. Materials and methods: A meta-analysis was performed using clinical trials from MEDLINE and LILACS with a Jadad score > 2. Additional studies were not found on ClinicalTrials.gov and ResearchGate. The main endpoint was the persistence of radiological lesions and the secondary endpoint was the presence of adverse effects. Pooled relative risks (RR) and 95 % confidence intervals were calculated for both endpoints using the Mantel-Haenszel fixed-effects model. The analysis was conducted using software Stata 11. Heterogeneity was assessed by chi-square test and a value of p < 0.10 was considered statistically significant. Publication bias was estimated by sensitivity analysis and Egger's test. Results: Four studies were included. There was no difference between long- and short-term albendazole therapies for neurocysticercosis. Pooled RR of the persistence of radiological lesions after short-term vs. long-term therapy was 1.05 (95 % CI 0.72-1.54). Mantel-Haenszel test showed a p-value of 0.789. Moreover, both the sensitivity analysis and Egger's test supported the absence of publication bias. No significant difference was noticed regarding the adverse effects. Conclusions: Evidence suggests that there is no difference between short- and long-term therapies for single transitional parenchymal lesions; therefore short-term therapy may be used effectively.
