Background: Familial hypercholesterolemia is defined by a genetically elevated concentration of plasma cholesterol. This is a descriptive and retrospective study to evaluate the prevalence of clinical manifestations of FH clinically diagnosed in our setting.
Patients and methods: 114 non-related patients, from lipid clinics, entered into the study. Analytical criteria were total cholesterol over 7.8 mmol/l (300 mg/dl), triglycerides under 2.8 mmol/l (250 mg/dl), and at least one first-degree relative bearing the same lipid profile. Clinical history, antropometric measurements, lipid deposits and profile, treatment and its effects on lipid levels were recorded. Lipoprotein (a) concentration, apolipoprotein E (apo E) genotype and the presence of apo B-3500 mutations were analysed.
Results: Mean total cholesterol was 9.05 (1.58) mmol/l, LDL-cholesterol 7.09 (1.64) mmol/l, HDL-cholesterol 1.33 (0.45) mmol/l and triglyceride 1.38 (0.59) mmol/l. Xanthomas were found in 11.4% of the participants, 12.2% showed xanthelasmas and corneal arch was present in 27.1% of them. The 16.8% of the patients were suffering from ischaemic cardiopathy. Patients with corneal arch had higher concentrations of total and LDL-cholesterol (7.6 [1.9] vs 6.8 [1.5] mmol/l [p = 0.04]). A 57.9% of the patients with ischaemic heart disease had at least one first degree relative with the same complaint (p < 0.05). The apo B-3500 mutation was not found in this population. The apo E3/E4 genotype was present in 16.1% of the patients and total and LDL cholesterol concentrations were higher in them than in patients with the apo E3/E3 genotype (p < 0.05). In the multivariate analysis, the most important risk factors associated with ischaemic cardiopathy were the smoking habit (odds ratio [OR] = 20.59; CI: 3.3-111.2), corneal arch (OR = 7.27; 95% CI: 1.08-27.1). HDL-cholesterol concentrations were negatively associated with the existence of ischaemic heart disease (OR = 0.21; 95% CI: 0.03-1.15).
Conclusions: The presence of ischaemic heart disease and lipids deposits in clinically diagnosed patients of familial hypercholesterolemia in our country is lower than description from others non Mediterranean, being the corneal arch the most prevalent sign. The smoking habit, corneal arch and the presence of familial antecessors with ischaemic heart disease were associated with ischaemic myocardiopathy in our patients.