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Updated: Aug 12, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Women with familial hypercholesterolemia phenotype are undertreated and poorly controlled compared to men
Alberto Zamora1,2,3,4,5, Rafel Ramos6,7,8,9, Marc Comas-Cufi10,11
1Lipids and Arteriosclerosis Unit, Corporació de Salut del Maresme I la Selva, Girona, Spain.
Insights
Women with Familial Hypercholesterolemia-Phenotype (FH-P) receive less intensive lipid-lowering therapy (LLT) and show poorer adherence than men. This results in a lower likelihood of achieving LDL-c goals, particularly in secondary prevention settings.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) is a prevalent autosomal dominant disorder, significantly increasing the risk of early coronary heart disease (CHD).
- Understanding sex-based differences in the management and outcomes of FH is crucial for optimizing cardiovascular disease prevention strategies.
Purpose of the Study:
- To compare the effectiveness of lipid-lowering therapy (LLT) and treatment adherence between men and women diagnosed with Familial Hypercholesterolemia-Phenotype (FH-P).
- To identify sex-specific disparities in achieving lipid level goals in both primary and secondary prevention among FH-P patients.
Main Methods:
- Analysis of a large cohort (over 2.5 million individuals) from the Catalan primary care database, identifying 14,699 subjects with FH-P based on LDL-c levels.
- Comparison of LLT intensity, medication possession ratio (MPR) for adherence, and achievement of LDL-c goals stratified by sex and prevention setting (primary vs. secondary).
Main Results:
- Women with FH-P were less likely to be treated with high-intensity LLT compared to men in both primary and secondary prevention.
- Adherence to LLT was lower in women, particularly those over 55 years old in secondary prevention.
- A significantly higher percentage of both women and men with FH-P failed to reach target LDL-c levels (<1.81 mmol/L), with women showing a slightly lower probability of achieving their goals.
Conclusions:
- Women with FH-P experience significant sex-based disparities in LLT intensity and adherence, leading to suboptimal lipid management.
- These findings underscore the need for sex-specific approaches in managing FH-P to improve cardiovascular outcomes and reduce the burden of early CHD.
Abstract:
Familial hypercholesterolemia (FH) is an autosomal dominant disease that has a prevalence of approximately 1/250 inhabitants and is the most frequent cause of early coronary heart disease (CHD). We included 1.343.973 women and 1.210.671 men with at least one LDL-c measurement from the Catalan primary care database. We identified 14.699 subjects with Familial hypercholesterolemia-Phenotype (FH-P) based on LDL-c cut-off points by age (7.033 and 919 women, and 5.088 and 1659 men in primary and secondary prevention, respectively). Lipid lower therapy (LLT), medication possession ratio (MPR) as an indicator of adherence, and number of patients that reached their goal on lipid levels were compared by sex. In primary and secondary prevention, 69% and 54% of women (P = 0.001) and 64% and 51% of men (P = 0.001) were on low-to-moderate-potency LLT. Adherence to LLT was reduced in women older than 55 years, especially in secondary prevention (P = 0.03), where the percentage of women and men with LDL-c > 1.81 mmol/L were 99.9% and 98.9%, respectively (P = 0.001). Women with FH-P are less often treated with high-intensity LLT, less adherent to LLT, and have a lower probability of meeting their LDL-c goals than men, especially in secondary prevention.
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