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.

Scientific Reports
|January 27, 2023
PubMed

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.

Related Concept Videos

Atherosclerosis III: Management01:26

Atherosclerosis III: Management

Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
16
Coronary Artery Disease IV: Preventive Measures01:26

Coronary Artery Disease IV: Preventive Measures

Effective preventive measures for coronary artery disease (CAD) focus on controlling modifiable risk factors, including cholesterol abnormalities and lifestyle changes.Cholesterol ManagementFirst, the Mediterranean diet and the American Heart Association advocate for maintaining low-density lipoprotein (LDL) cholesterol levels below 100 mg/dL, with a more stringent recommendation of below 70 mg/dL for individuals at high risk. LDL cholesterol, often termed "bad cholesterol," can lead to the...
30
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
739
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
625
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.6K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.1K