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

2024-04-01Clinical study Restricted access
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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.contributor.authorGallo, Antonio
dc.contributor.authorHovingh, G. Kees
dc.contributor.authorKim, Ngoc Thanh
dc.contributor.authorLong, Jiang
dc.contributor.authorRaal, Frederick J.
dc.contributor.authorSchonck, Willemijn A.M.
dc.contributor.authorSoran, Handrean
dc.contributor.authorTruong, Thanh-Huong
dc.contributor.authorBoersma, Eric
dc.contributor.authorRoeters van Lennep, Jeanine E.
dc.contributor.authorHomozygous Familial Hypercholesterolemia International Clinical Collaborators
dc.date.accessioned2025-04-07T18:30:43Z
dc.date.available2025-04-07T18:30:43Z
dc.date.issued2024-04-01
dc.descriptionHomozygous Familial Hypercholesterolemia International Clinical Collaborators - INSA: Mafalda Bourbon.
dc.description.abstractHomozygous 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.eng
dc.description.abstractKey Points: - Question: Are there sex differences in presentation at diagnosis, management, and atherosclerotic cardiovascular diseases (ASCVD) outcomes in patients with homozygous familial hypercholesterolemia (HoFH)?; - Findings: This cohort study of 751 patients with HoFH revealed no sex differences in age at diagnosis, treatment, and cardiovascular risk factors, except for a higher smoking prevalence in men. Men had higher incidence of myocardial infarction (MI), while other incident expressions of ASCVD morbidity were similar between sexes; - Meaning The findings indicate that HoFH represents a very high risk of premature ASCVD without clear sex differences, except a higher incidence of MI in men.por
dc.identifier.citationJAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597
dc.identifier.doi10.1001/jamacardio.2023.5597
dc.identifier.issn2380-6583
dc.identifier.pmid38353972
dc.identifier.urihttp://hdl.handle.net/10400.18/10489
dc.language.isoeng
dc.peerreviewedyes
dc.publisherAmerican Medical Association
dc.relation.hasversionhttps://jamanetwork.com/journals/jamacardiology/fullarticle/2814835
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectHomozygous
dc.subjectFamilial Hypercholesterolemia
dc.subjectCardiovascular
dc.subjectDoenças Cardio e Cérebro-vasculares
dc.titleSex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemiaeng
dc.typeclinical study
dspace.entity.typePublication
oaire.citation.endPage322
oaire.citation.issue4
oaire.citation.startPage313
oaire.citation.titleJAMA Cardiology
oaire.citation.volume9
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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