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Familial hypercholesterolemia: Experience in the Lipid Clinic of Alava
1Unidad de Lípidos, Hospital Universitario Araba, Vitoria, España.
Insights
Familial hypercholesterolaemia (FH) increases cardiovascular disease (CVD) risk. Key risk factors include male sex, family history, diabetes, and delayed statin treatment, highlighting the need for early intervention.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is an autosomal dominant disorder.
- It is a primary genetic cause of premature cardiovascular disease (CVD).
Purpose of the Study:
- To analyze clinical characteristics and cardiovascular risk factors in FH patients.
- To identify factors associated with increased CVD risk in a genetically confirmed FH cohort.
Main Methods:
- Retrospective, observational study of 133 FH patients.
- Analysis of clinical data, lipid levels, and cardiovascular events.
- Genetic confirmation of FH diagnosis.
Main Results:
- CVD observed in 8.3% of patients, predominantly ischaemic heart disease.
- Males had a significantly higher odds ratio (4.97) for coronary heart disease (CHD).
- Family history of premature CVD (OR 6.86), diabetes (P=0.0001), and smoking (P=0.005) were associated with increased CVD risk.
- Starting statin treatment after age 40 increased CHD risk (OR 6.40).
Conclusions:
- Male sex, family history of premature CVD, diabetes, and late-onset lipid-lowering treatment (after 40) are associated with higher cardiovascular event risk in FH patients.
- These findings underscore the importance of early diagnosis and intervention for FH.
- Optimizing LDL cholesterol goals remains crucial, with lower achievement rates in secondary prevention.
Introduction:
Familial hypercholesterolaemia (FH) is the autosomal dominant genetic disorder most frequently associated with premature cardiovascular disease (CVD).
Material And Methods:
A retrospective, observational study was conducted to determine the clinical characteristics, analytical parameters and cardiovascular risk factors of 133 patients with a genetically confirmed diagnosis of FH on follow-up in the Lipid Clinic of Alava.
Results:
CVD was observed in 8.30% of the patients (ischaemic heart disease in 100% of the cases). The LDL concentration goal was achieved in 40.6% (45.50% in primary prevention and 27.30% in secondary prevention). The large majority (81.80%) of patients with coronary heart disease (CHD) were male. The odds ratio (OR) of males having CHD compared to females is 4.97 (1.03-23.93, P=.03). The OR of developing CHD in patients with a family history of premature CVD is 6.86 (1.32-35.67, P=.02). A statistically significant association was found between smoking and the risk of CVD (P=.005), and also between having diabetes and the risk of CVD (P=0.0001). If the treatment with statins begins at older than 40 years, the OR of suffering CHD is 6.40 (1.53-26.5) (P=.009). The mean time from diagnosis to the cardiovascular event in the group of ex-smokers is 10.80±5.80 years, and in the non-smoking group it is 17.50±2.50 years (P=.011).
Conclusions:
In our reference population with FH, it was found that there was an increased risk of suffering a cardiovascular event in male patients, with a family history of premature CVD, diabetics, and in those in whom lipid lowering treatment was started after 40 years of age.
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