{"id":"https://openalex.org/W2412949428","doi":null,"title":"Familial hypercholesterolaemia: optimum treatment strategies.","display_name":"Familial hypercholesterolaemia: optimum treatment strategies.","publication_year":2002,"publication_date":"2002-07-01","ids":{"openalex":"https://openalex.org/W2412949428","mag":"2412949428","pmid":"https://pubmed.ncbi.nlm.nih.gov/12296605"},"language":"en","primary_location":{"id":"pmid:12296605","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12296605","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International journal of clinical practice. Supplement","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5052604218","display_name":"Christie Mitchell Ballantyne","orcid":"https://orcid.org/0000-0002-6432-1730","observed_orcids":["https://orcid.org/0000-0002-6432-1730"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"C M Ballantyne","raw_affiliation_strings":["Department of Medicine, Baylor College of Medicine, Houston, Texas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Baylor College of Medicine, Houston, Texas, USA","institution_ids":["https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5052604218"],"corresponding_institution_ids":["https://openalex.org/I181547552"],"apc_list":null,"apc_paid":null,"fwci":0.2112,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.58657289,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":null,"issue":"130","first_page":"22","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.9890000224113464},{"id":"https://openalex.org/keywords/heterozygous-familial-hypercholesterolemia","display_name":"heterozygous familial hypercholesterolemia","score":0.925000011920929},{"id":"https://openalex.org/keywords/ldl-receptor","display_name":"LDL receptor","score":0.675000011920929},{"id":"https://openalex.org/keywords/ldl-cholesterol","display_name":"LDL cholesterol","score":0.9340000152587891},{"id":"https://openalex.org/keywords/cardiovascular-risk","display_name":"cardiovascular risk","score":0.781000018119812},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.7580000162124634},{"id":"https://openalex.org/keywords/statins","display_name":"statins","score":0.9049999713897705},{"id":"https://openalex.org/keywords/rosuvastatin","display_name":"rosuvastatin","score":0.9380000233650208},{"id":"https://openalex.org/keywords/atorvastatin","display_name":"atorvastatin","score":0.9829999804496765},{"id":"https://openalex.org/keywords/hdl-cholesterol","display_name":"HDL cholesterol","score":0.6850000023841858},{"id":"https://openalex.org/keywords/apolipoprotein-b","display_name":"apolipoprotein B","score":0.7649999856948853},{"id":"https://openalex.org/keywords/apolipoprotein-a-i","display_name":"apolipoprotein A-I","score":0.8870000243186951},{"id":"https://openalex.org/keywords/ldl-hdl-ratio","display_name":"LDL/HDL ratio","score":0.9020000100135803},{"id":"https://openalex.org/keywords/lipid-lowering-therapy","display_name":"lipid-lowering therapy","score":0.5640000104904175}],"concepts":[{"id":"https://openalex.org/C2780499067","wikidata":"https://www.wikidata.org/wiki/Q415159","display_name":"Rosuvastatin","level":2,"score":0.9010838270187378},{"id":"https://openalex.org/C2777482532","wikidata":"https://www.wikidata.org/wiki/Q668093","display_name":"Atorvastatin","level":2,"score":0.6944289803504944},{"id":"https://openalex.org/C62746215","wikidata":"https://www.wikidata.org/wiki/Q14890615","display_name":"Apolipoprotein B","level":3,"score":0.670947790145874},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.642667293548584},{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.608745813369751},{"id":"https://openalex.org/C2776839432","wikidata":"https://www.wikidata.org/wiki/Q954845","display_name":"Statin","level":2,"score":0.5908684134483337},{"id":"https://openalex.org/C43554185","wikidata":"https://www.wikidata.org/wiki/Q425649","display_name":"LDL receptor","level":4,"score":0.5574183464050293},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.538753092288971},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.5026791095733643},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4215857982635498},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4185602068901062},{"id":"https://openalex.org/C2776692505","wikidata":"https://www.wikidata.org/wiki/Q412677","display_name":"Pitavastatin","level":3,"score":0.41729283332824707},{"id":"https://openalex.org/C104950815","wikidata":"https://www.wikidata.org/wiki/Q415607","display_name":"HMG-CoA reductase","level":4,"score":0.4115239977836609},{"id":"https://openalex.org/C2780072125","wikidata":"https://www.wikidata.org/wiki/Q28350","display_name":"Lipoprotein","level":3,"score":0.3996446132659912},{"id":"https://openalex.org/C134651460","wikidata":"https://www.wikidata.org/wiki/Q3100717","display_name":"Reductase","level":3,"score":0.3956959545612335},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.33042603731155396},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19109803438186646},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.09529465436935425},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.08297017216682434}],"mesh":[{"descriptor_ui":"D000924","descriptor_name":"Anticholesteremic Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000960","descriptor_name":"Hypolipidemic Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D003327","descriptor_name":"Coronary Disease","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D003327","descriptor_name":"Coronary Disease","qualifier_ui":"Q000517","qualifier_name":"prevention & control","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D008078","descriptor_name":"Cholesterol, LDL","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D011973","descriptor_name":"Receptors, LDL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:12296605","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12296605","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International journal of clinical practice. Supplement","raw_type":"Journal Article"},{"id":"mag:2412949428","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12296605","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2006581906","https://openalex.org/W1644779837","https://openalex.org/W2747212541","https://openalex.org/W2101428534","https://openalex.org/W630612001","https://openalex.org/W2096169414","https://openalex.org/W298487901","https://openalex.org/W2042833179","https://openalex.org/W2085362615","https://openalex.org/W3197217805"],"abstract_inverted_index":{"Familial":[0],"hypercholesterolaemia":[1],"(FH)":[2],"is":[3],"a":[4],"hereditary":[5],"metabolic":[6],"disorder":[7],"characterised":[8],"by":[9,197,205],"defects":[10],"in":[11,34,41,81,143,186,214],"the":[12,42,74,93,124,166,230,241],"low-density":[13],"lipoprotein":[14,202],"(LDL)":[15],"receptor,":[16],"elevated":[17],"LDL":[18,140],"cholesterol":[19,203],"(LDL-C)":[20],"levels":[21],"and":[22,45,52,55,61,91,114,149,199,229,237,247],"an":[23],"extremely":[24],"high":[25,48],"risk":[26,88,146,251],"for":[27,78,89,136,147,252],"premature":[28],"cardiovascular":[29,249],"disease.":[30],"Heterozygous":[31],"FH":[32,51,190],"occurs":[33],"about":[35],"one":[36],"of":[37,50,71,95,102,138],"every":[38],"500":[39],"individuals":[40,144],"United":[43],"States":[44],"Europe.":[46],"The":[47],"prevalence":[49],"associated":[53],"morbidity":[54],"mortality":[56],"strongly":[57],"support":[58],"aggressive":[59,106],"screening":[60,112,235],"treatment.":[62],"There":[63],"are":[64,133],"two":[65],"major":[66],"barriers":[67],"to":[68,76,99,126,155,211,243],"effective":[69],"management":[70,246],"FH:":[72],"1)":[73],"failure":[75],"screen":[77],"this":[79,159],"disease":[80,250],"people":[82],"who":[83],"may":[84],"be":[85],"at":[86,145],"increased":[87,200],"it;":[90],"2)":[92],"inability":[94],"most":[96],"available":[97,135],"therapies":[98,239],"enable":[100],"achievement":[101],"LDL-C":[103,196],"goals.":[104],"More":[105],"screening,":[107],"coupled":[108],"with":[109,158,165,188,254],"new":[110,167,234],"genetic":[111,131],"techniques,":[113],"more":[115],"powerful":[116],"3-hydroxy-3-methylglutaryl":[117],"coenzyme":[118],"A":[119],"(HMG-CoA)":[120],"reductase":[121],"inhibitors":[122],"have":[123,151,191,240],"potential":[125,242],"overcome":[127],"these":[128,216],"limitations.":[129],"Automated":[130],"assays":[132],"now":[134],"detection":[137],"common":[139],"receptor":[141],"mutations":[142],"FH,":[148],"they":[150],"been":[152],"used":[153],"effectively":[154],"identify":[156],"patients":[157,187,253],"condition.":[160],"Recent":[161],"clinical":[162],"trial":[163],"results":[164],"synthetic":[168],"statin":[169],"rosuvastatin":[170],"(Crestor;":[171],"AstraZeneca,":[172],"Alderley":[173],"Park,":[174],"Macclesfield,":[175],"Cheshire,":[176],"UK;":[177],"licensed":[178],"from":[179],"Shionogi":[180],"&":[181],"Co,":[182],"Ltd,":[183],"Osaka,":[184],"Japan)":[185],"heterozygous":[189],"shown":[192],"that":[193],"it":[194],"decreased":[195],"58%":[198],"high-density":[201],"(HDL-C)":[204],"12%.":[206],"Rosuvastatin":[207],"was":[208],"significantly":[209,244],"superior":[210],"high-dose":[212],"atorvastatin":[213],"improving":[215],"lipid":[217],"parameters":[218],"as":[219,221],"well":[220],"total":[222],"cholesterol,":[223],"apolipoprotein":[224],"(apo)":[225],"B,":[226],"apo":[227],"A-I,":[228],"LDL-C/HDL-C":[231],"ratio.":[232],"Thus,":[233],"tools":[236],"medical":[238],"improve":[245],"reduce":[248],"FH.":[255]},"counts_by_year":[{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}