Phenotype of familial hypercholesterolemia patients with acute coronary syndrome - Data from the prospective observational registry study (PRIMA-ACS)

Background and Aims: There is a problem of underestimation of FH in a real clinical practice. In a significant number of patients, FH clinically debut with ACS. We aimed to analyze the prevalence and clinical parameters of patients with phenotype of FH among patients with ACS assessing the frequency of recurrent cardiovascular events. Methods: A study included 500 patients hospitalized due to the fact of ACS (two patients were lost at the follow-up). The clinical probability of FH was assessed using the diagnostic criteria of the Dutch Lipid Clinic Network. The follow-up lasted for one year. Results: A possible diagnosis of FH was verified in 86 (17.3%) patients, a probable diagnosis of FH - in 6 (1.2%). Patients with possible and probable FH were characterized by younger age [68.5 versus 59.5 and 50.5 years, p<0.001], a higher incidence of family history of premature CVDs [22.9% versus 77.9% and 83.3%, p<0.001] and an earlier personal history of CVDs [24.1% versus 90.7% and 100%, p<0.001] compared to patients without FH. Age-adjusted subanalysis showed that mixed type of coronary blood flow was significantly more often observed in patients with possible FH [p=0.049]. There were no significant differences in the localization of hemodynamically relevant coronary stenoses, however, the most frequent lesions were observed in the LAD and RCA. There were no significant differences in the development of cardiovascular events during hospitalization and after hospital discharge (p>0.05). Conclusions: A high percentage of FH among ACS patients has been determined. These results demonstrate the importance of better identification of FH patients.