Coronary heart disease development in heterozygotic form of familial hypercholesterolemia

Aim. To assess coronary heart disease (CHD) and its risk factors (RF) prevalence, as well as their interaction in patients with heterozygotic form of familial hypercholesterolemia (FHCH). Material and methods. The analysis included 200 patients aged 24 years and above, with clinical diagnosis of FHCH. Cardiovascular status, RF type and prevalence were studied in patients with and without CHD. Multivariance analysis was performed to determine the link between RF and CHD development. Results. CHD prevalence in non-treated FHCH was as high as 61,5%. CHD rates increased with age, and were greater in males. CHD patients were older and had more adverse RF profile. Myocardial infarction was registered in 31% of the patients: for males - 18,1%, for females - 48,8% (р=0,00001). According to coronaroangiography data, coronary lesion number was similar in both genders, but in males occlusion severity was greater. In arterial hypertension (AH) multivariance analysis, CHD was the most important RF in FHCH patients. High blood pressure, combined with MTHFR CC genotype, increased CHD risk by 6,3 times, and AH-free combination of VII coagulation factor QQ genotype with GpIIIa CC genotype increased CHD risk by 8 times. Without treatment, male and female survival was substantially low in families with FHCH, especially for males. Conclusion. CHD is a typical feature of non-treated FHCH, developing earlier in males. In FHCH patients, CHD predictors include not only traditional RF, but also their combinations with genetic protein variations, not related to lipid metabolism.

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