<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-9957</journal-id>
<journal-title><![CDATA[Revista colombiana de Gastroenterología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Col Gastroenterol]]></abbrev-journal-title>
<issn>0120-9957</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Gastroenterología  ]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-99572017000400358</article-id>
<article-id pub-id-type="doi">10.22516/25007440.180</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida]]></article-title>
<article-title xml:lang="en"><![CDATA[Colombian Guidelines for Diagnosis of Lipase Acid Deficiency]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santamaría Escobar]]></surname>
<given-names><![CDATA[Alfredo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baquero Montoya]]></surname>
<given-names><![CDATA[Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García Bermejo]]></surname>
<given-names><![CDATA[Roberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jaramillo Villegas]]></surname>
<given-names><![CDATA[Adriana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barrios]]></surname>
<given-names><![CDATA[Armando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Coll Barrios]]></surname>
<given-names><![CDATA[Mauricio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[de Vivero Camacho]]></surname>
<given-names><![CDATA[Rodrigo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López Panqueva]]></surname>
<given-names><![CDATA[Rocío del Pilar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Márquez]]></surname>
<given-names><![CDATA[William]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mora Quintero]]></surname>
<given-names><![CDATA[Diana Victoria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pérez Álvarez]]></surname>
<given-names><![CDATA[Omar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rivera Nieto]]></surname>
<given-names><![CDATA[Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Simancas Escalante]]></surname>
<given-names><![CDATA[Evelyn]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sarmiento Marengo]]></surname>
<given-names><![CDATA[Giomar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez Urrego]]></surname>
<given-names><![CDATA[Luis Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruiz Navas]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez Franco]]></surname>
<given-names><![CDATA[Claudia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez Zamora]]></surname>
<given-names><![CDATA[David Alfonso]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Botero]]></surname>
<given-names><![CDATA[Verónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario San Vicente Fundación  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Pablo Tobón Uribe  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Infantil Napoleón Franco Pareja  ]]></institution>
<addr-line><![CDATA[Cartagena ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Clínica Las Américas  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Unidad de Gastroenterología Pediátrica del Cesar  ]]></institution>
<addr-line><![CDATA[Valledupar ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Centro Médico Almirante Colón  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Hospital Infantil Napoleón Franco Pareja Departamento de Pediatría ]]></institution>
<addr-line><![CDATA[Cartagena ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,Hospital Universitario Fundación Santa Fe de Bogotá  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Fundación Hospital de la Misericordia  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A10">
<institution><![CDATA[,Fundación Hospital de la Misericordia  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A11">
<institution><![CDATA[,Clínica la Misericordia  ]]></institution>
<addr-line><![CDATA[Barranquilla ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A12">
<institution><![CDATA[,Fundación Cardioinfantil  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A13">
<institution><![CDATA[,Hospital San Juan de Sahagún  ]]></institution>
<addr-line><![CDATA[Sahagún Córdoba]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A14">
<institution><![CDATA[,Hospital Universitario Fernando Troconis  ]]></institution>
<addr-line><![CDATA[Santa Marta Magdalena]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A15">
<institution><![CDATA[,Hospital Federico Lleras Acosta  ]]></institution>
<addr-line><![CDATA[Ibagué Tolima]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A16">
<institution><![CDATA[,Hospital Pablo Tobón Uribe  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A17">
<institution><![CDATA[,Fundación Hospital de la Misericordia  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A18">
<institution><![CDATA[,Hospital Universitario Fundación Santa Fe de Bogotá  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A19">
<institution><![CDATA[,Fundación Valle del Lili  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2017</year>
</pub-date>
<volume>32</volume>
<numero>4</numero>
<fpage>358</fpage>
<lpage>368</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-99572017000400358&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-99572017000400358&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-99572017000400358&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  la deficiencia de lipasa ácida 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 de 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 con base en el consenso clínico, que buscan optimizar la ruta diagnóstica en los pacientes con dicha patología.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Lysosomal acid lipase deficiency (LAL-D) is an inherited autosomal recessive entity that leads to the accumulation of cholesterol and triglyceride esters in the liver, spleen and other organs. The age of onset and rate of progression vary greatly, possibly explained by mutations of the LIPA gene. Clinical manifestations are the same as those of other hepatic, cardiovascular and metabolic pathologies which makes it difficult to recognize in clinical practice. Objective: The objectives of these guidelines is to help clinicians recognize the major groups at risk for LAL-D and to improve its diagnosis.  Methodology:  This document was designed as a consensus of experts in gastroenterology, hepatology, endocrinology, genetics, pathology and pediatrics. A review of the literature regarding clinical manifestations and tools for diagnosis of LAL-D was conducted and the nominal group technique was followed.  Results:  Diagnostic algorithms which facilitate suspicion and diagnosis of LAL-D were generated by consensus for each of the risk groups.  Conclusions:  This guide proposes algorithms for the diagnosis of LAL-D based on clinical consensus. The algorithms seek to optimize diagnosis for patients with this pathology.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Deficiencia de lipasa ácida]]></kwd>
<kwd lng="es"><![CDATA[enfermedad por depósito de esteres de colesterol]]></kwd>
<kwd lng="es"><![CDATA[enfermedad de Wolman]]></kwd>
<kwd lng="es"><![CDATA[dislipidemia]]></kwd>
<kwd lng="es"><![CDATA[hepatomegalia]]></kwd>
<kwd lng="en"><![CDATA[Acid lipase deficiency]]></kwd>
<kwd lng="en"><![CDATA[cholesterol ester deposition disease]]></kwd>
<kwd lng="en"><![CDATA[Wolman&#8217;s disease]]></kwd>
<kwd lng="en"><![CDATA[dyslipidemia]]></kwd>
<kwd lng="en"><![CDATA[hepatomegaly]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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