Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia

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dc.contributor.authorMulder, Janneke W.C.M.
dc.contributor.authorTromp, Tycho R.
dc.contributor.authorAl-Khnifsawi, Mutaz
dc.contributor.authorBlom, Dirk J.
dc.contributor.authorChlebus, Krysztof
dc.contributor.authorCuchel, Marina
dc.contributor.authorD’Erasmo, Laura
dc.date.accessioned2026-04-04T13:17:26Z
dc.date.available2026-04-04T13:17:26Z
dc.date.issued2024
dc.departmentİnönü Üniversitesi
dc.description.abstractImportance: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous familial hypercholesterolemia (HeFH) is more common than HoFH, and women with HeFH are diagnosed later and undertreated compared to men; it is unknown whether these sex differences also apply to HoFH. Objective: To investigate sex differences in age at diagnosis, risk factors, lipid-lowering treatment, and ASCVD morbidity and mortality in patients with HoFH. Design, Setting, and Participants: Sex-specific analyses for this retrospective cohort study were performed using data from the HoFH International Clinical Collaborators (HICC) registry, the largest global dataset of patients with HoFH, spanning 88 institutions across 38 countries. Patients with HoFH who were alive during or after 2010 were eligible for inclusion. Data entry occurred between February 2016 and December 2020. Data were analyzed from June 2022 to June 2023. Main Outcomes and Measures: Comparison between women and men with HoFH regarding age at diagnosis, presence of risk factors, lipid-lowering treatment, prevalence, and onset and incidence of ASCVD morbidity (myocardial infarction [MI], aortic stenosis, and combined ASCVD outcomes) and mortality. Results: Data from 389 women and 362 men with HoFH from 38 countries were included. Women and men had similar age at diagnosis (median [IQR], 13 [6-26] years vs 11 [5-27] years, respectively), untreated LDL cholesterol levels (mean [SD], 579 [203] vs 596 [186] mg/dL, respectively), and cardiovascular risk factor prevalence, except smoking (38 of 266 women [14.3%] vs 59 of 217 men [27.2%], respectively). Prevalence of MI was lower in women (31 of 389 [8.0%]) than men (59 of 362 [16.3%]), but age at first MI was similar (mean [SD], 39 [13] years in women vs 38 [13] years in men). Treated LDL cholesterol levels and lipid-lowering therapy were similar in both sexes, in particular statins (248 of 276 women [89.9%] vs 235 of 258 men [91.1%]) and lipoprotein apheresis (115 of 317 women [36.3%] vs 118 of 304 men [38.8%]). Sixteen years after HoFH diagnosis, women had statistically significant lower cumulative incidence of MI (5.0% in women vs 13.7% in men; subdistribution hazard ratio [SHR], 0.37; 95% CI, 0.21-0.66) and nonsignificantly lower all-cause mortality (3.0% in women vs 4.1% in men; HR, 0.76; 95% CI, 0.40-1.45) and cardiovascular mortality (2.6% in women vs 4.1% in men; SHR, 0.87; 95% CI, 0.44-1.75). Conclusions and Relevance: In this cohort study of individuals with known HoFH, MI was higher in men compared with women yet age at diagnosis and at first ASCVD event were similar. These findings suggest that early diagnosis and treatment are important in attenuating the excessive cardiovascular risk in both sexes.. © 2024 American Medical Association. All rights reserved.
dc.description.sponsorshipEuropean Atherosclerosis Society, EAS
dc.identifier.doi10.1001/jamacardio.2023.5597
dc.identifier.endpage322
dc.identifier.issn2380-6583
dc.identifier.issue4
dc.identifier.pmid38353972
dc.identifier.scopus2-s2.0-85185923456
dc.identifier.scopusqualityQ1
dc.identifier.startpage313
dc.identifier.urihttps://doi.org/10.1001/jamacardio.2023.5597
dc.identifier.urihttps://hdl.handle.net/11616/107925
dc.identifier.volume9
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherAmerican Medical Association
dc.relation.ispartofJAMA Cardiology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_Scopus_20250329
dc.subjectAdolescent
dc.subjectAtherosclerosis
dc.subjectCholesterol, LDL
dc.subjectCohort Studies
dc.subjectFemale
dc.subjectHomozygous Familial Hypercholesterolemia
dc.subjectHumans
dc.subjectMale
dc.subjectMyocardial Infarction
dc.subjectRetrospective Studies
dc.subjectSex Characteristics
dc.subjectantilipemic agent
dc.subjectcholesterol
dc.subjecthydroxymethylglutaryl coenzyme A reductase inhibitor
dc.subjectlipoprotein
dc.subjectlow density lipoprotein cholesterol
dc.subjectlow density lipoprotein cholesterol
dc.subjectadolescent
dc.subjectadult
dc.subjectage
dc.subjectall cause mortality
dc.subjectangina pectoris
dc.subjectaortic stenosis
dc.subjectaortic valve replacement
dc.subjectArticle
dc.subjectcardiovascular mortality
dc.subjectcardiovascular risk
dc.subjectcholesterol blood level
dc.subjectcigarette smoking
dc.subjectclinical outcome
dc.subjectcohort analysis
dc.subjectcoronary artery bypass surgery
dc.subjectcoronary atherosclerosis
dc.subjectdata analysis
dc.subjectdisease registry
dc.subjectearly diagnosis
dc.subjectfamilial hypercholesterolemia
dc.subjectfemale
dc.subjecthazard ratio
dc.subjecthealth care facility
dc.subjectheart infarction
dc.subjecthomozygous familial hypercholesterolemia
dc.subjecthuman
dc.subjectincidence
dc.subjectischemic stroke
dc.subjectlipoprotein apheresis
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmorbidity
dc.subjectmortality
dc.subjectpatient care
dc.subjectpercutaneous coronary intervention
dc.subjectperipheral arterial disease
dc.subjectprevalence
dc.subjectprognosis
dc.subjectretrospective study
dc.subjectrisk factor
dc.subjectrisk reduction
dc.subjectsex difference
dc.subjecttransient ischemic attack
dc.subjectyoung adult
dc.subjectatherosclerosis
dc.subjectheart infarction
dc.subjecthomozygous familial hypercholesterolemia
dc.subjectsexual characteristics
dc.titleSex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
dc.typeArticle

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