{"id":7923,"date":"2020-09-07T15:53:03","date_gmt":"2020-09-07T15:53:03","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/?p=7923"},"modified":"2026-01-07T19:55:16","modified_gmt":"2026-01-07T19:55:16","slug":"familial-hypercholesterolemia","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/es\/familial-hypercholesterolemia\/","title":{"rendered":"Criterios Diagn\u00f3stico de Hipercolesterolemia Familiar (HF)"},"content":{"rendered":"<div class=\"7ca9444b8380138fe077da07353677a4\" data-index=\"1\" style=\"float: none; margin:0px 0 0px 0; text-align:center;\">\n<script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script>\r\n<!-- MC 2019- Horizontal -->\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-client=\"ca-pub-0127150553352455\"\r\n     data-ad-slot=\"3806776041\"\r\n     data-ad-format=\"auto\"\r\n     data-full-width-responsive=\"true\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script>\n<\/div>\n<p>El diagn\u00f3stico cl\u00ednico de la HF se basa en los antecedentes personales y familiares, el examen f\u00edsico y las concentraciones de l\u00edpidos. Tres grupos han desarrollado herramientas de diagn\u00f3stico cl\u00ednico para la HF: el Programa MedPed de EE. UU., El Grupo de Registro Simon Broome en el Reino Unido y la Red de Cl\u00ednicas de L\u00edpidos de Holanda.<!--more--><\/p>\n<p><strong>Criterios MEDPED de EE. UU. para el diagn\u00f3stico de HF<\/strong><\/p>\n<table style=\"border-collapse: collapse; width: 100%;\" border=\"1\">\n<tbody>\n<tr>\n<td style=\"width: 7.5%;\"><span style=\"font-size: 10pt;\"><strong>Edad, a\u00f1os<\/strong><\/span><\/td>\n<td style=\"width: 21.7124%;\"><span style=\"font-size: 10pt;\">Familiar de primer grado con HF<\/span><\/td>\n<td style=\"width: 22.5684%;\"><span style=\"font-size: 10pt;\">Familiar de segundo grado con HF<\/span><\/td>\n<td style=\"width: 22.911%;\"><span style=\"font-size: 10pt;\">Familiar de tercer grado con HF<\/span><\/td>\n<td style=\"width: 25.3082%;\"><span style=\"font-size: 10pt;\"><strong>Poblaci\u00f3n General<\/strong><\/span><\/td>\n<\/tr>\n<tr>\n<td style=\"width: 7.5%;\"><span style=\"font-size: 10pt;\">&lt;20<\/span><\/td>\n<td style=\"width: 21.7124%;\"><span style=\"font-size: 10pt;\">220 mg\/dL (5.7 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.5684%;\"><span style=\"font-size: 10pt;\">230 mg\/dL (5.9 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.911%;\"><span style=\"font-size: 10pt;\">240 mg\/dL (6.2 mmol\/L)<\/span><\/td>\n<td style=\"width: 25.3082%;\"><span style=\"font-size: 10pt;\">270 mg\/dL (7.0 mmol\/L)<\/span><\/td>\n<\/tr>\n<tr>\n<td style=\"width: 7.5%;\"><span style=\"font-size: 10pt;\">20\u201329<\/span><\/td>\n<td style=\"width: 21.7124%;\"><span style=\"font-size: 10pt;\">240 mg\/dL (6.2 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.5684%;\"><span style=\"font-size: 10pt;\">250 mg\/dL (6.5 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.911%;\"><span style=\"font-size: 10pt;\">260 mg\/dL (6.7 mmol\/L)<\/span><\/td>\n<td style=\"width: 25.3082%;\"><span style=\"font-size: 10pt;\">290 mg\/dL (7.5 mmol\/L)<\/span><\/td>\n<\/tr>\n<tr>\n<td style=\"width: 7.5%;\"><span style=\"font-size: 10pt;\">30\u201339<\/span><\/td>\n<td style=\"width: 21.7124%;\"><span style=\"font-size: 10pt;\">270 mg\/dL (7.0 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.5684%;\"><span style=\"font-size: 10pt;\">280 mg\/dL (7.2 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.911%;\"><span style=\"font-size: 10pt;\">290 mg\/dL (7.5 mmol\/L)<\/span><\/td>\n<td style=\"width: 25.3082%;\"><span style=\"font-size: 10pt;\">340 mg\/dL (8.8 mmol\/L)<\/span><\/td>\n<\/tr>\n<tr>\n<td style=\"width: 7.5%;\"><span style=\"font-size: 10pt;\">\u226540<\/span><\/td>\n<td style=\"width: 21.7124%;\"><span style=\"font-size: 10pt;\">290 mg\/dL (7.5 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.5684%;\"><span style=\"font-size: 10pt;\">300 mg\/dL (7.8 mmol\/L)<\/span><\/td>\n<td style=\"width: 22.911%;\"><span style=\"font-size: 10pt;\">310 mg\/dL (8.0 mmol\/L)<\/span><\/td>\n<td style=\"width: 25.3082%;\"><span style=\"font-size: 10pt;\">360 mg\/dL (9.3 mmol\/L)<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><span style=\"font-size: 10pt;\">Se diagnostica FH si el colesterol total supera estos puntos de corte en mg\/dL (mmol\/L)*<\/span><\/p>\n<p><span style=\"font-size: 10pt;\">FH indica hipercolesterolemia familiar; MEDPED, Realice un diagn\u00f3stico temprano para prevenir la muerte prematura.<\/span><br \/>\n<span style=\"font-size: 10pt;\">* Los puntos de corte de colesterol total para la HF dependen de los casos confirmados de HF en la familia. Si la HF no se diagnostica en la familia, entonces el punto de corte para el diagn\u00f3stico es seg\u00fan la \u00abpoblaci\u00f3n general\u00bb.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Criterios de Simon Broome para el diagn\u00f3stico de HF (criterios de registros de HF del Reino Unido)<\/strong><\/p>\n<table style=\"border-collapse: collapse; width: 100%; height: 125px;\" border=\"1\">\n<tbody>\n<tr style=\"height: 24px;\">\n<td style=\"width: 14.3836%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Posibilidad<\/strong><\/span><\/td>\n<td style=\"width: 85.6164%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Criterios<\/strong><\/span><\/td>\n<\/tr>\n<tr style=\"height: 96px;\">\n<td style=\"width: 14.3836%; height: 36px;\" rowspan=\"3\"><span style=\"font-size: 10pt;\">Definitivo<\/span><\/td>\n<td style=\"width: 85.6164%; height: 16px;\"><span style=\"font-size: 10pt;\">En adultos: CT &gt;7.5 mmol\/L (290.0 mg\/dL) (o cuando est\u00e9 disponible, LDL-C &gt;4.9 mmol\/L [189.5 mg.dL])<\/span><br \/>\n<span style=\"font-size: 10pt;\">En pacientes pedi\u00e1tricos: CT &gt;6,7 mmol\/L (259,1 mg\/dL) o LDL-C &gt;4 mmol\/L (154,7 mg\/dL), Y<\/span><\/td>\n<\/tr>\n<tr style=\"height: 48px;\">\n<td style=\"width: 85.6164%; height: 10px;\"><span style=\"font-size: 10pt;\">Xantomas en tendones en el paciente o familiares de primer\/segundo grado, O alternativamente:<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 85.6164%; height: 10px;\"><span style=\"font-size: 10pt;\">Presencia de mutaci\u00f3n LDL-R, ApoB o PCSK9<\/span><\/td>\n<\/tr>\n<tr style=\"height: 96px;\">\n<td style=\"width: 14.3836%; height: 65px;\" rowspan=\"3\"><span style=\"font-size: 10pt;\">Posible<\/span><\/td>\n<td style=\"width: 85.6164%; height: 17px;\"><span style=\"font-size: 10pt;\">En adultos: CT &gt;7.5 mmol\/L (290.0 mg\/dL) (o cuando est\u00e9 disponible, LDL-C &gt;4.9 mmol\/L [189.5 mg.dL])<\/span><br \/>\n<span style=\"font-size: 10pt;\">En pacientes pedi\u00e1tricos: CT &gt;6,7 mmol\/L (259,1 mg\/dL) o LDL-C &gt;4 mmol\/L (154,7 mg\/dL), Y<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 85.6164%; height: 24px;\"><span style=\"font-size: 10pt;\">Antecedentes familiares de IM &lt;50 a\u00f1os en un familiar de segundo grado o &lt;60 a\u00f1os en un familiar de primer grado O alternativamente<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 85.6164%; height: 24px;\"><span style=\"font-size: 10pt;\">Antecedentes familiares de CT &gt;7.5 mmol\/L (290.0 mg\/dL) en un familiar de primer o segundo grado.<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><span style=\"font-size: 10pt;\">Para convertir LDL-C en mmol\/L a mg\/dL, multiplique por 38,67. ApoB indica apolipoprote\u00edna B; FH, hipercolesterolemia familiar; LDL, lipoprote\u00edna de baja densidad; LDL-R, receptor de lipoprote\u00ednas de baja densidad; MI, infarto de miocardio; PCSK9, proprote\u00edna convertasa subtilisina\/kexina tipo 9; TC, colesterol total.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Criterios de la red de l\u00edpidos holandesa para el diagn\u00f3stico de HF<\/strong><\/p>\n<table style=\"border-collapse: collapse; width: 100%;\" border=\"1\">\n<tbody>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Criterios<\/strong><\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\"><strong>Puntuaci\u00f3n<\/strong><\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Historia <\/strong><strong>Familiar\u00a0<\/strong><\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px;\"><\/td>\n<\/tr>\n<tr style=\"height: 48px;\">\n<td style=\"width: 83.9041%; height: 48px;\"><span style=\"font-size: 10pt;\">ECV prematura (hombres &lt;55 a\u00f1os, mujeres &lt;60 a\u00f1os) en familiar de primer grado, O<\/span><\/td>\n<td style=\"width: 16.0959%; height: 48px; text-align: center;\"><span style=\"font-size: 10pt;\">1<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">LDL &gt; percentil 95 en familiar de primer grado Y\/O<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">\u00a01<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Xantoma en tendones y\/o arco corneal en familiar de primer grado, O<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">2<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">LDL &gt; percentil 95 en ni\u00f1os &lt;18 a\u00f1os<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">2<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Historia <\/strong><strong>Personal\u00a0<\/strong><\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px;\"><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">EAC prematura en paciente (hombres &lt;55 a\u00f1os, mujeres &lt;60 a\u00f1os)<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">2<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Enfermedad vascular perif\u00e9rica o cerebral prematura (hombres &lt;55 a\u00f1os, mujeres &lt;60 a\u00f1os)<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">1<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Examen cl\u00ednico<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px;\"><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Xantomas en tendones O<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">6<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Arcos corneales en menores de 45 a\u00f1os<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">4<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>LDL<\/strong><\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px;\"><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">&gt;330 mg\/dL (8.5 mmol\/L)<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">8<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">250\u2013329 mg\/dL (6.5\u20138.5 mmol\/L)<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">5<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">190\u2013249 mg\/dL (4.9\u20136.4 mmol\/L)<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">3<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">155\u2013189 mg\/dL (4.0\u20134.9 mmol\/L)<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">1<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Presencia de mutaci\u00f3n funcional de LDL-R (en el gen LDL-R, ApoB o PCSK9) <\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">8<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Diagn\u00f3stico basado en la puntuaci\u00f3n global<\/strong><\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px;\"><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Definitivo<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">&gt;8<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Probable<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">6\u20138<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Posible<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">3\u20135<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\">Improbable<\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\">&lt;3<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><span style=\"font-size: 10pt;\">ApoB indica apolipoprote\u00edna B; EAC, enfermedad de las arterias coronarias; ECV, enfermedad cardiovascular; HF, hipercolesterolemia familiar; LDL, lipoprote\u00edna de baja densidad; LDL-R, receptor de lipoprote\u00ednas de baja densidad; PCSK9, proprote\u00edna convertasa subtilisina\/kexina tipo 9.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Bibliograf\u00eda:<\/strong><\/p>\n<ol>\n<li>McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB. Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia. J Am Heart Assoc. 2019;8(24):e013225. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31838973\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Sturm AC, Knowles JW, Gidding SS, et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol. 2018;72(6):662-680. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30071997\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>Creado Ago 27, 2020.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>El diagn\u00f3stico cl\u00ednico de la HF se basa en los antecedentes personales y familiares, el examen f\u00edsico y las concentraciones de l\u00edpidos. Tres grupos han desarrollado herramientas de diagn\u00f3stico cl\u00ednico para la HF: el Programa MedPed de EE. UU., El Grupo de Registro Simon Broome en el Reino Unido y la Red de Cl\u00ednicas de [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"no","_lmt_disable":"no","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[153],"tags":[16,15,14,13,804,803,210,2244],"class_list":["post-7923","post","type-post","status-publish","format-standard","hentry","category-endocrinology-and-metabolism","tag-criteria","tag-criterios","tag-diagnostic","tag-diagnostico","tag-familial","tag-familiar","tag-hipercolesterolemia","tag-hypercholesterolemia"],"modified_by":"Guillermo Firman","_links":{"self":[{"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/posts\/7923","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/comments?post=7923"}],"version-history":[{"count":15,"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/posts\/7923\/revisions"}],"predecessor-version":[{"id":9404,"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/posts\/7923\/revisions\/9404"}],"wp:attachment":[{"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/media?parent=7923"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/categories?post=7923"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/es\/wp-json\/wp\/v2\/tags?post=7923"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}