<?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>0872-671X</journal-id>
<journal-title><![CDATA[Medicina Interna]]></journal-title>
<abbrev-journal-title><![CDATA[Medicina Interna]]></abbrev-journal-title>
<issn>0872-671X</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Medicina Interna]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-671X2021000400042</article-id>
<article-id pub-id-type="doi">10.24950/rspmi.r.92.4.2021</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Síndrome de Quilomicronemia Familiar: Algoritmo Diagnóstico]]></article-title>
<article-title xml:lang="en"><![CDATA[Familial Chylomicronaemia Syndrome (Fcs): A Diagnostic Algorithm]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Colaço]]></surname>
<given-names><![CDATA[Inês]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Araújo]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aguiar]]></surname>
<given-names><![CDATA[Patrício]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cruz]]></surname>
<given-names><![CDATA[Diogo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bourbon]]></surname>
<given-names><![CDATA[Mafalda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Duarte]]></surname>
<given-names><![CDATA[João Sequeira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Veríssimo]]></surname>
<given-names><![CDATA[Manuel Teixeira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Lisboa Norte Hospital de Santa Maria Serviço de Urgência]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Lusíadas Serviço de Medicina ]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar de Lisboa Norte Hospital de Santa Maria Serviço de Medicina 1]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital de Cascais Serviço de Medicina ]]></institution>
<addr-line><![CDATA[Cascais ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidade de Lisboa Faculdade de Ciências Instituto Nacional de Saúde Doutor Ricardo Jorge]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Centro Hospitalar de Lisboa Oriental Hospital Egas Moniz Serviço de Endocrinologia]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Hospital Distrital da Figueira da Foz  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>28</volume>
<numero>4</numero>
<fpage>42</fpage>
<lpage>50</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-671X2021000400042&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-671X2021000400042&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-671X2021000400042&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A hipertrigliceridemia, a par do aumento do risco cardiovascular pode, em níveis muito elevados, ter consequências como a pancreatite recorrente e dor abdominal. A síndrome da quilomicronemia familiar (SQF) é uma doença autossómica recessiva rara do metabolismo dos quilomicra, causada mais frequentemente por mutação do gene da lipoproteína lipase. A concentração plasmática de triglicéridos (TG) pode ser dez vezes superior ao normal. Distinguir esta condição da quilomicronemia multifactorial (QMM) pode tornar-se difícil pela semelhança fenotípica, sendo necessário realizar o teste genético. O tratamento da hipertrigliceridemia foca-se na prevenção da pancreatite em doentes com hipertrigliceridemia grave e na redução do risco cardiovascular global. O volanesorseno é um fármaco indicado na SQF que actua sobretudo pela clearance dos TG por vias independentes da LPL, atingindo em estudos de fase 2 reduções da apoC--III e de TG de 79,6% e 70,9% respectivamente; em estudos de fase 3, a redução de TG foi de 77%, com efeitos adversos minor. Os dados acerca da redução de risco cardiovascular são mais limitados. Tendo em conta a realidade nacional, os autores propõem um algoritmo de abordagem da hipertrigliceridemia que se inicia nos Cuidados de Saúde Primários com a exclusão de causas secundárias de hiper-trigliceridemia e determinação da necessidade de referen-ciação a uma consulta de especialidade para confirmação do diagnóstico, com base no score do SQF sugerido por Moulin et al em 2018.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Hypertriglyceridemia increases not only the cardiovascular risk but can also cause abdominal pain and recurrent pancrea-titis when in very high levels. Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disease that affects chylomicron metabolism. FCS is most commonly caused by mutation of the lipoprotein lipase (LPL) gene, which results in triglycerides 10 times higher than normal. The phenotypic resemblance makes the differential diagnosis with multifacto-rial chylomicronaemia very difficult, requiring genetic testing. Treatment has 2 goals: reducing cardiovascular risk as well as pancreatitis prevention. Volanevorsen is authorized for FCS treatment, acting by triglyceride clearance non-related to lipo-protein lipase. Phase 2 studies showed an apoC-III and TG reduction of 79.6% and 70.9% respectively; in phase 3 studies the TG reduction was 77% with minor adverse reactions. Data on the cardiovascular risk reduction are limited. We propose an algorithm for the approach of hypertriglyceridemia adapted to the Portuguese reality. Exclusion of secondary causes for hypertriglyceridemia begins in primary care; hospital referral is needed to confirm the diagnosis based on the score proposed by Moulin et al in 2018.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Algoritmo]]></kwd>
<kwd lng="pt"><![CDATA[Hiperlipoproteinemia Tipo I/diagnóstico]]></kwd>
<kwd lng="pt"><![CDATA[Técnicas de Apoio para a Decisão]]></kwd>
<kwd lng="en"><![CDATA[Algorithms]]></kwd>
<kwd lng="en"><![CDATA[Decision Support Techniques]]></kwd>
<kwd lng="en"><![CDATA[Hyperlipoproteinemia Type I/diagnosis]]></kwd>
</kwd-group>
</article-meta>
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