{"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\/familial-hypercholesterolemia\/","title":{"rendered":"Diagnostic Criteria for Familial Hypercholesterolemia (FH)"},"content":{"rendered":"<div class=\"99c380e4b4a7b96c35d7ddf7dcb434e8\" 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>The clinical diagnosis of FH is founded on personal and family history, physical examination, and lipid concentrations. Three groups have developed clinical diagnostic tools for FH: the US MedPed Program, the Simon Broome Register Group in the United Kingdom, and the Dutch Lipid Clinic Network.<!--more--><\/p>\n<p><strong>US MEDPED Criteria for FH Diagnosis<\/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>Age, y<\/strong><\/span><\/td>\n<td style=\"width: 21.7124%;\"><span style=\"font-size: 10pt;\"><strong>First-Degree Relative With FH<\/strong><\/span><\/td>\n<td style=\"width: 22.5684%;\"><span style=\"font-size: 10pt;\"><strong>Second-Degree Relative With FH<\/strong><\/span><\/td>\n<td style=\"width: 22.911%;\"><span style=\"font-size: 10pt;\"><strong>Third-Degree Relative With FH<\/strong><\/span><\/td>\n<td style=\"width: 25.3082%;\"><span style=\"font-size: 10pt;\"><strong>General Population<\/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;\">FH Is Diagnosed if Total Cholesterol Exceeds These Cut-Off Points in mg\/dL (mmol\/L)*<\/span><\/p>\n<p><span style=\"font-size: 10pt;\">FH indicates familial hypercholesterolemia; MEDPED, Make Early Diagnosis to Prevent Early Death.<\/span><br \/>\n<span style=\"font-size: 10pt;\">*The total cholesterol cut-off points for FH are dependent upon the confirmed cases of FH in the family. If FH is not diagnosed in the family, then the cut-off point for diagnosis is as per \u201cgeneral population.\u201d<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Simon Broome Criteria for the Diagnosis of FH (UK FH Registers Criteria)<\/strong><\/p>\n<table style=\"border-collapse: collapse; width: 100%; height: 146px;\" border=\"1\">\n<tbody>\n<tr style=\"height: 24px;\">\n<td style=\"width: 14.3836%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Possibility<\/strong><\/span><\/td>\n<td style=\"width: 85.6164%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Criteria<\/strong><\/span><\/td>\n<\/tr>\n<tr style=\"height: 96px;\">\n<td style=\"width: 14.3836%; height: 30px;\" rowspan=\"3\"><span style=\"font-size: 10pt;\">Definite<\/span><\/td>\n<td style=\"width: 85.6164%; height: 10px;\"><span style=\"font-size: 10pt;\">In adults: TC &gt;7.5 mmol\/L (290.0 mg\/dL) (or when available, LDL-C &gt;4.9 mmol\/L [189.5 mg.dL])<\/span><br \/>\n<span style=\"font-size: 10pt;\">In pediatric patients: TC &gt;6.7 mmol\/L (259.1 mg\/dL), or LDL-C &gt;4 mmol\/L (154.7 mg\/dL), AND<\/span><\/td>\n<\/tr>\n<tr style=\"height: 48px;\">\n<td style=\"width: 85.6164%; height: 10px;\"><span style=\"font-size: 10pt;\">Tendon xanthoma in the patient or first\/second-degree relative, OR alternatively:<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 85.6164%; height: 10px;\"><span style=\"font-size: 10pt;\">Presence of LDL-R, ApoB, or PCSK9 mutation<\/span><\/td>\n<\/tr>\n<tr style=\"height: 96px;\">\n<td style=\"width: 14.3836%; height: 92px;\" rowspan=\"3\"><span style=\"font-size: 10pt;\">Possible<\/span><\/td>\n<td style=\"width: 85.6164%; height: 44px;\"><span style=\"font-size: 10pt;\">In adults: TC &gt;7.5 mmol\/L (290.0 mg\/dL) (or when available, LDL-C &gt;4.9 mmol\/L [189.5 mg.dL])<\/span><br \/>\n<span style=\"font-size: 10pt;\">In pediatric patients: TC &gt;6.7 mmol\/L (259.1 mg\/dL), or LDL-C &gt;4 mmol\/L (154.7 mg\/dL), AND<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 85.6164%; height: 24px;\"><span style=\"font-size: 10pt;\">Family history of MI &lt;50 y old in second-degree relative or &lt;60 y old in first-degree relative OR alternatively<\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 85.6164%; height: 24px;\"><span style=\"font-size: 10pt;\">Family history of TC &gt;7.5 mmol\/L (290.0 mg\/dL) in a first- or second-degree relative.<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><span style=\"font-size: 10pt;\">To convert LDL-C in mmol\/L to mg\/dL, multiply by 38.67. ApoB indicates apolipoprotein B; FH, familial hypercholesterolemia; LDL, low-density lipoprotein; LDL-R, low-density lipoprotein receptor; MI, myocardial infarction; PCSK9, proprotein convertase subtilisin\/kexin type 9; TC, total cholesterol.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Dutch Lipid Network Criteria for Diagnosis of FH<\/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>Criteria<\/strong><\/span><\/td>\n<td style=\"width: 16.0959%; height: 24px; text-align: center;\"><span style=\"font-size: 10pt;\"><strong>Score<\/strong><\/span><\/td>\n<\/tr>\n<tr style=\"height: 24px;\">\n<td style=\"width: 83.9041%; height: 24px;\"><span style=\"font-size: 10pt;\"><strong>Family history<\/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;\">Premature CVD (men &lt;55 y old, women &lt;60 y old) in first-degree relative, OR<\/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;95th percentile in first-degree relative AND\/OR<\/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;\">Tendon xanthoma and\/or arcus cornealis in first-degree relative, OR<\/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;95th percentile in children &lt;18 y old<\/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>Personal history<\/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;\">Premature CAD in patient (men &lt;55 y old, women &lt;60 y old)<\/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;\">Premature cerebral or peripheral vascular disease (men &lt;55 y old, women &lt;60 y old)<\/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;\"><strong>Clinical examination<\/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;\">Tendon xanthomas, OR<\/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;\">Corneal arcus younger than 45 y old<\/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;\">Presence of functional LDL-R mutation (in the LDL-R, ApoB, or PCSK9 gene)<\/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>Diagnosis based on the overall score<\/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;\">Definite<\/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;\">Possible<\/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;\">Unlikely<\/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 indicates apolipoprotein B; CAD, coronary artery disease; CVD, cardiovascular disease; FH, familial hypercholesterolemia; LDL, low-density lipoprotein; LDL-R, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin\/kexin type 9.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><strong>References:<\/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>Created Aug 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>Sorry, this entry is only available in Espa\u00f1ol.<\/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"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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