Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida
DOI:
https://doi.org/10.22516/25007440.180Palabras clave:
Deficiencia de lipasa acida, enfermedad por depósito de esteres de colesterol, enfermedad de Wolman, dislipidemia, hepatomegaliaResumen
Introducción: La deficiencia de lipasa acida lisosomal (LAL-D) es una entidad de herencia autosómica recesiva que lleva a la acumulación de esteres de colesterol y triglicéridos en el hígado, bazo y otros órganos. La edad de inicio y la tasa de progresión son muy variables, lo que posiblemente sea explicado por las mutaciones presentes en el gen LIPA. Las manifestaciones clínicas son las mismas que para otras patologías hepáticas, cardiovasculares y metabólicas, lo que hace difícil reconocerla en la práctica clínica.
Objetivo: Proveer una guía que permita a los clínicos reconocer los principales grupos de riesgo en los cuales se debe sospechar LAL-D y mejorar su diagnóstico.
Metodología: Este documento se diseñó como un Consenso de Expertos en el cual participaron médicos especialistas en Gastroenterología, hepatología, endocrinología, genética, patología y pediatría. Se realizó una revisión de la literatura acerca de las manifestaciones clínicas y de las herramientas para el diagnóstico de LAL-D y se siguió la metodología de técnica de grupo nominal.
Resultados: Se generaron algoritmos diagnósticos por consenso para cada uno de los grupos de riesgo, que facilitaran la sospecha y el diagnóstico de LAL-D.
Conclusiones: Esta guía propone algoritmos para el diagnóstico de LAL-D, basados en el consenso clínico, que buscan optimizar la ruta diagnóstica en los pacientes con esta patología.Descargas
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Alexion PharmaReferencias bibliográficas
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