<?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>0120-5552</journal-id>
<journal-title><![CDATA[Revista Salud Uninorte]]></journal-title>
<abbrev-journal-title><![CDATA[Salud, Barranquilla]]></abbrev-journal-title>
<issn>0120-5552</issn>
<publisher>
<publisher-name><![CDATA[Fundación Universidad del Norte, División de Ciencias de la]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-55522022000100352</article-id>
<article-id pub-id-type="doi">10.14482/sun.38.1.616.399</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hipercolesterolemia familiar descripción de un caso en una familia de Armenia - Quindío (Colombia)]]></article-title>
<article-title xml:lang="en"><![CDATA[Familial hypercholesterolemia: a case of a family located in Armenia - Quindío (Colombia)]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[HOYOS]]></surname>
<given-names><![CDATA[DIEGO HERNÁN]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[CASTAÑO]]></surname>
<given-names><![CDATA[KELLY JOHANNA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[BUSTOS]]></surname>
<given-names><![CDATA[JULIETA FRANCO]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[BUSTOS]]></surname>
<given-names><![CDATA[VALENTINA FRANCO]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[ARTEAGA PICHARDO]]></surname>
<given-names><![CDATA[MARÍA XIMENA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[SÁNCHEZ]]></surname>
<given-names><![CDATA[MARÍA JOSÉ]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[FERRER]]></surname>
<given-names><![CDATA[AMENAIDA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[LECHTIG]]></surname>
<given-names><![CDATA[SHARON]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[JIMÉNEZ]]></surname>
<given-names><![CDATA[DANIEL]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[CARDONA]]></surname>
<given-names><![CDATA[MARÍA JOSÉ]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[URREA]]></surname>
<given-names><![CDATA[FELIPE BERNATE]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[GÓMEZ]]></surname>
<given-names><![CDATA[NATALIA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[GARCÍA]]></surname>
<given-names><![CDATA[ANGÉLICA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[VARGAS VILLANUEVA]]></surname>
<given-names><![CDATA[ANDRÉS IGNACIO]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[ANGEL]]></surname>
<given-names><![CDATA[FELIPE]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[CELIS]]></surname>
<given-names><![CDATA[LUIS GUSTAVO]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Bosque  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Quindío  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A10">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A11">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A12">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A13">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A14">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A15">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="A16">
<institution><![CDATA[,Universidad de La Sabana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<volume>38</volume>
<numero>1</numero>
<fpage>352</fpage>
<lpage>366</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-55522022000100352&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-55522022000100352&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-55522022000100352&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: La Hipercolesterolemia familiar (HF) es una enfermedad genética de carácter autosómico dominante, poco frecuente, generada por la mutación en el cromosoma 19. Es la primera causa de enfermedad cardiovascular prematura. Las mutaciones patogénicas que generan la HF se relacionan con el receptor de LDL (LDLr), la apolipoproteina B-100 (Apo- B100) y la proteína convertasa subtilisina / kexina tipo 9 (PCSK9), que produce elevación del colesterol y alteración de la vía del LDLr en el 80 % de los casos diagnosticados de HF (5). Presentamos un reporte de caso de cuatro pacientes que pertenecen a la misma familia, quienes presentan mutaciones patogénicas de diferente compromiso a nivel cardiovascular y sistémico que ha afectado de manera negativa su cotidianidad. El objetivo de este trabajo es realizar una correlación del hipercolesterolemia familiar de tipo genético a partir de la literatura, con respecto a la serie de casos presentada, y evaluar el impacto que este genera en los servicios de salud, en la vida del paciente y su familia.  Discusión: El reporte de caso que presentamos se fundamenta en la sospecha de HF según los criterios de Holanda. En estos pacientes se reconoce mutación del gen LDLr que se relaciona con HF. Sin embargo, no ha sido ampliamente estudiada. Chmara realizó en Polonia por primera vez un estudio en el que reportó la variante ac 11G&gt;T. En Colombia, el estudio de López encontró tres mutaciones, identificadas como variante a c.11G &gt; A, n c.416A &gt; G y c.1187G &gt; A (8).  Conclusión: La HF en nuestro medio es poco frecuente y con gran impacto social, en la mayoría de los casos genera síntomas clínicos y aumento del riesgo cardiovascular desde una edad temprana. Es importante resaltar el diagnóstico oportuno y el conocimiento por parte del personal de salud para generar una calidad de vida adecuada a los pacientes y evitar que aumente el riesgo cardiovascular.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Familial hypercholesterolemia (FH) is a rare autosomal dominant genetic disease caused by a chromosome 19 mutation. It is the main cause of premature cardiovascular disease. Pathogenic mutations which cause FH are related to the LDL receptor (LDLr), B-100 apolipoprotein (Apo-B100) and type 9 subtilisin/kexin convertase protein (PCSK9), causing blood cholesterol increase and impairment of the LDLr pathway in up to 80% of patients diagnosed with FH. We present the case of 4 patients belonging to the same family and who present pathogenic mutations leading to diverse kinds of cardiovascular and systemic disease.  Discussion: The case report we are presenting is based on the suspicion of FH according to the dutch criteria. These patients had the LDLr gene mutation related to FH. However, this mutation has not been thoroughly studied. The ac 11G&gt;T variant was reported for the first time in Poland by Chmara. In Colombia, Lopez found 3 mutations identified as variant a c.11G &gt; A, variant n c.416A &gt; G and variant c.1187G &gt; A.  Conclusion: FH is rare in Colombia. Early diagnosis and healthcare worker awareness must be highlighted to improve the quality of life and decrease the cardiovascular risk of patients.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[hipercolesterolemia familiar]]></kwd>
<kwd lng="es"><![CDATA[colesterol de baja densidad]]></kwd>
<kwd lng="es"><![CDATA[riesgo cardiovascular]]></kwd>
<kwd lng="es"><![CDATA[xantomas]]></kwd>
<kwd lng="es"><![CDATA[xantelasmas]]></kwd>
<kwd lng="en"><![CDATA[familial hypercholesterolemia]]></kwd>
<kwd lng="en"><![CDATA[low density cholesterol]]></kwd>
<kwd lng="en"><![CDATA[cardiovascular risk]]></kwd>
<kwd lng="en"><![CDATA[xanthomas]]></kwd>
<kwd lng="en"><![CDATA[xanthelasmas]]></kwd>
</kwd-group>
</article-meta>
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