Prevalence of potential familial hypercholesteremia (FH) in 54,811 statin-treated patients in clinical practice

- FH is a life threatening disease that is underdiagnosed; its prevalence varies globally.
- Prevalence of FH was estimated in 54,811 statin-treated patients in 29 countries.
- Across countries, 16.1% of patients had high LDL-C values > 3.6 mmol/L (140 mg/dL).
- Prevalence ranged from 6 to 28% for possible FH and was highest in younger persons.
- Earlier diagnosis and treatment is needed to reduce CVD risk in FH patients.

Background and aimsFamilial hypercholesterolemia (FH) is a life-threatening disease, characterized by elevated LDL-C levels and a premature, increased risk of coronary heart disease (CHD) that is globally underdiagnosed. The percentage of patients with possible or probable FH in various countries was examined in the Dyslipidemia International Study (DYSIS).MethodsDYSIS is a multinational, cross-sectional observational study of 54,811 adult outpatients treated with statin therapy. The percentages of patients with high levels of LDL-C, and with possible or probable FH, were assessed using the Dutch scoring method for FH across 29 countries, in age subgroups for the analysis population and among diabetes patients.ResultsDespite statin therapy, 16.1% (range 4.4-27.6%) of patients had LDL-C >3.6 mmol/L (140 mg/dL) across countries and the prevalence of possible FH was 15.0% (range 5.5-27.8%) and 1.1% (range 0.0-5.4%) for probable FH. The highest percentages of probable FH occurred in Egypt (5.4%), the Baltic states (4.2%), Russia (3.2%), and Slovenia (3.1%), with the lowest rates in Israel (0.0%), Canada (0.2%), and Sweden (0.3%). Rates of FH were the highest in younger patients (45-54 years) for secondary prevention, regardless of the presence/absence of diabetes.ConclusionsDespite statin therapy, high LDL-C levels and rates of possible and probable FH were observed in some countries. The prevalence of FH was the highest in younger age patients, and >60% of patients with probable FH displayed CHD. Earlier diagnosis and treatment of patients with FH are needed to reduce CHD risk in these patients.