Prevention & lipidsCohort study

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

JAMA CardiolPublished

  • Retrospective cohort study
  • international registry (HoFH International Clinical Collaborators (HICC))
  • 88 institutions, 38 countries
  • sex-specific analyses

Data entry February 2016 to December 2020; analysed June 2022 to June 2023

Authors' conclusion

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.

Study context

Population
Patients with homozygous familial hypercholesterolemia (HoFH) alive during or after 2010, HICC registry
Participants
389 vs 362
Exposure
Women vs men with HoFH
  • Womenn = 389
  • Menn = 362reference
Outcome
Sex differences in age at diagnosis, risk factors, lipid-lowering treatment, and atherosclerotic cardiovascular disease (ASCVD) morbidity (MI, aortic stenosis, combined ASCVD outcomes) and mortality

Main finding

As reported in the abstract

Women vs MenEstimate (95% CI)
cumulative incidence of MI 16 years after diagnosis: 5.0% vs 13.7%
SHR 0.37(0.21–0.66)
all-cause mortality 16 years after diagnosis: 3.0% vs 4.1%
HR 0.76(0.40–1.45)
CV mortality 16 years after diagnosis: 2.6% vs 4.1%
SHR 0.87(0.44–1.75)

Observational data: associations, not effects.

Further findings

OutcomeWomenMen
Lipid-lowering therapy
Statins248 of 276 [89.9%]235 of 258 [91.1%]
Lipoprotein apheresis115 of 317 [36.3%]118 of 304 [38.8%]

Lipid-lowering therapy

Treated low-density lipoprotein (LDL) cholesterol levels and lipid-lowering therapy similar in both sexes

Original publication

Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia. JAMA Cardiol. Published 1 April 2024. doi:10.1001/jamacardio.2023.5597

Summarised from the published abstract; every number is checked against it