Familial hypercholesterolemia: Experience in the Lipid Clinic of Alava

Abstract

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.

Keywords: Cardiovascular disease; Cardiovascular risk factors; Enfermedad cardiovascular; Factores de riesgo cardiovascular; Familial hypercholesterolaemia; Hipercolesterolemia familiar.