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Published on: September 15, 2018
Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia
H A W Neil1, V Seagroatt, D J Betteridge
1Division of Public Health & Primary Health Care, Institute of Health Sciences, University of Oxford, Old Road, Headington, Oxford OX3 7LF, UK. andrew.neil@wolfson.ox.ac.uk
Insights
Coronary artery disease (CAD) in treated familial hypercholesterolaemia is strongly linked to smoking. Emerging risk factors showed no association, highlighting the need for early smoking cessation interventions.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is an inherited condition leading to high low-density lipoprotein cholesterol levels.
- Individuals with FH have a significantly increased risk of premature coronary artery disease (CAD).
- Understanding factors influencing CAD susceptibility in treated FH is crucial for risk stratification.
Purpose of the Study:
- To identify clinical and biochemical factors associated with variations in coronary artery disease (CAD) susceptibility among patients with treated heterozygous familial hypercholesterolaemia.
- To investigate the role of emerging cardiovascular risk factors in the development of CAD in this specific patient population.
Main Methods:
- A cross-sectional study involving 410 patients with treated heterozygous familial hypercholesterolaemia from six UK lipid clinics.
- Data collection included clinical characteristics, biochemical markers, and documented presence of CAD.
- Statistical analyses were performed to assess associations between various factors and CAD, adjusting for age, sex, and smoking status.
Main Results:
- Coronary artery disease (CAD) was diagnosed in 49% of men and 28% of women.
- Smoking was significantly associated with a higher prevalence of CAD (51% in smokers vs. 28% in non-smokers).
- Lower high-density lipoprotein (HDL) cholesterol levels were significantly associated with CAD, particularly in women.
Conclusions:
- Emerging coronary risk factors are not significantly associated with CAD in treated adults with familial hypercholesterolaemia.
- A strong association between smoking and CAD underscores the importance of early identification and smoking prevention in childhood.
- Targeted interventions focusing on smoking cessation are vital for managing CAD risk in familial hypercholesterolaemia patients.
Objectives:
To assess the clinical and biochemical factors associated with inter-individual variation in susceptibility to coronary artery disease (CAD) in treated heterozygous familial hypercholesterolaemia.
Design:
A cross sectional study was conducted of 410 patients recruited from six lipid clinics in the UK.
Results:
CAD was documented in 104 of the 211 men and in 55 of the 199 women with mean ages of onset of 43.1 and 46.5 years, respectively. CAD was significantly more common in men (49% v 28%, p < 0.001) and in patients who had smoked cigarettes versus patients who had never smoked (51% v 28%, p < 0.001). After adjusting for age, sex, and current smoking status, there were no significant differences between patients with or without CAD in lipoprotein(a), homocysteine, fibrinogen, plasminogen activator inhibitor-1, white blood cell count, body mass index, glucose, triglyceride or total cholesterol. However, high density lipoprotein (HDL) cholesterol concentrations were significantly lower in those with CAD (6%, 95% confidence interval (CI) 1% to 11%, p = 0.03) and this difference was greater in women than men (12% v 2%, p = 0.041).
Conclusions:
These results indicate that emerging coronary risk factors appear not to be associated with CAD in adults with treated familial hypercholesterolaemia, but the strong association with smoking suggests that patients should be identified early in childhood and discouraged from ever starting to smoke.
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