<?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>1409-0015</journal-id>
<journal-title><![CDATA[Medicina Legal de Costa Rica]]></journal-title>
<abbrev-journal-title><![CDATA[Med. leg. Costa Rica]]></abbrev-journal-title>
<issn>1409-0015</issn>
<publisher>
<publisher-name><![CDATA[Asociación Costarricense de Medicina Forense]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1409-00152016000100254</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Telangiectasia hemorrágica hereditaria Enfermedad de Osler Weber Rendu]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vargas Castro]]></surname>
<given-names><![CDATA[María Paula]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,marivargas29@gmail.com  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2016</year>
</pub-date>
<volume>33</volume>
<numero>1</numero>
<fpage>254</fpage>
<lpage>261</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S1409-00152016000100254&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S1409-00152016000100254&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S1409-00152016000100254&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: La telangiectasia hemorrágica hereditaria (THH) o el síndrome de Osler Weber Rendu, es una enfermedad autosómica dominante caracterizada por telangectasias mucocutaneas, epistaxis y sangrados digestivos recurrentes y por el desarrollo de malformaciones arteriovenosas (MAV) en órganos como cerebro, pulmón e hígado. Se estima que su prevalencia es de un caso en 5000 a 8000. Esta malformación vascular multisistémica tiene dos diferentes presentaciones, HHT1 y HTT2, la primera presenta mutaciones en el gen de endoglina (ENG), localizado en el cromosoma 9 y en la segunda presentación se observan mutaciones en el gen ALK1, localizado en el cromosoma 12, ambos genes cumplen un rol importante durante la angiogénesis. Las telangiectasias en la mucosa nasal y gastrointestinal generalmente resultan en sangrados crónicos y recurrentes y en anemia ferropénica. Las malformaciones arteriovenosas de mayor tamaño ocurren principalmente en los pulmones, hígado, cerebro y médula espinal. Es de suma importancia el tamizaje y el tratamiento presintomático ya que las complicaciones son potencialmente fatales, sin embargo, dado la rareza de este, con frecuencia es subdiagnosticado lo que conlleva a una alta morbilidad. El siguiente artículo provee una revisión de las características clínicas del síndrome, discute el tamizaje y las estrategias diagnósticas, presenta las opciones terapéuticas actuales y las modalidades de prevención empleadas actualmente y el seguimiento recomendado internacionalmente.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler-Weber-Rendu syndrome is an autosomal dominant familial disorder characterized by mucocutaneous telangiectasia, epistaxis, recurrent GI bleeding and by the development of arteriovenous malformations (AVM) in organs such as brain, lungs, and liver. Its prevalence is currently estimated at one in 5,000 to 8,000. This multisystemic vascular alteration disease has two different presentations, HHT1 and HHT2, the former is associated with mutations on the endoglin gen (ENG) localized in the 9th chromosome and the latter is associated with mutations in the activin receptor-like kinase 1 (ALK1) gen, localized in the 12th chromosome, both genes have an important role on the properties of endothelial cells during angiogenesis. Telangiectasias in nasal and gastrointestinal mucosa may lead to recurrent or chronic bleeding and iron deficiency anemia. Larger AVMs occur in lungs, liver, brain, and spine. It&#8217;s of utmost importance the presymptomatic screening and treatment due to the potentially fatal complications if this disorder, however, due to the rarity of this condition, its frequently underdiagnosed leading to a poor prognosis. This article provides an overview of the clinical features of HHT, discusses the screening and diagnostic strategies, and presents the actual treatment options and the international recommended surveillance.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Telangiectasia hemorrágica hereditaria]]></kwd>
<kwd lng="es"><![CDATA[Osler Weber Rendu]]></kwd>
<kwd lng="es"><![CDATA[epistaxis]]></kwd>
<kwd lng="es"><![CDATA[malformaciones arteriovenosas]]></kwd>
<kwd lng="es"><![CDATA[bevacizumab]]></kwd>
<kwd lng="en"><![CDATA[Hereditary hemorrhagic telangiectasia]]></kwd>
<kwd lng="en"><![CDATA[Osler-Weber-Rendu]]></kwd>
<kwd lng="en"><![CDATA[arteriovenous malformation]]></kwd>
<kwd lng="en"><![CDATA[epistaxis]]></kwd>
<kwd lng="en"><![CDATA[bevacizumab]]></kwd>
</kwd-group>
</article-meta>
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