Introduction and objective:

familial heterozygous hypercholesterolemia (HFH) is the most common monogenic lipid metabolism disorder that associates premature cardiovascular disease. Our aim was to describe the degree of metabolic control, cardiovascular profile, and adherence to the Mediterranean diet in a cohort of HFH patients.

Subjects and methods:

a retrospective cohort study of the index cases and their relatives genetically diagnosed with HFH by the Endocrinology and Nutrition Service in the HCUV from 2009 to 2017. Anthropometric, clinical, laboratory, genetic, and treatment data were analyzed.

Results:

a total of 138 subjects were studied, with a mean age of 48.8 (17.7) years, 55.8 % of them women. A gene mutation was found in 55.8 %, and 10.1 % had previous ischemic heart disease. At diagnosis mean total cholesterol was 281.1 (68.4) mg/dL, and LDL-C was 204 (65) mg/dL. Among family cases, at diagnosis, a lower mean age was observed [32.89 (19.2) years vs 50.3 (17.6) years, p < 0.001] as well as lower LDL values [181.9 (64.3) mg/dL vs 226.8 (52) mg/dL, p < 0.005] as compared to index cases. A positive correlation was observed between lipid-lowering treatment dose and LDL level reduction (r = 0.254, p < 0.05), although only 30 % of patients reached their LDL target. Patients with HFH were highly adherent to Mediterranean diet, with an average score of 9.5 (1.9) in the Predimed test.

Conclusions:

early HFH detection is necessary to prevent premature cardiovascular events. A diagnosis of cases among family members anticipates the treatment of patients with HFH. Patients with HFH are more sensitive to heart-healthy diets.

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