Predicting CV Events in Familial Hypercholesterolemia

Study Questions:

What are the key risk factors for predicting incident atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia (FH)?

Methods:

Data from SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study), a multicenter, prospective cohort, were used for the present analysis. This cohort includes patients identified with FH both with and without ASCVD. Data collected between January 2004 and October 2015 on adults 18 years or older with molecularly defined FH were included. Incident ASCVD was defined as fatal or nonfatal myocardial infarction, fatal or nonfatal ischemic stroke, coronary revascularization, peripheral artery revascularization, and/or CV death.

Results:

A total of 2,404 FH patients were included in the present analysis. Over a mean follow-up of 5.5 years, 12 (0.5%) and 122 (5.1%) experienced fatal and nonfatal incident ASCVD, respectively. Independent risk factors for incident ASCVD included age, male gender, history of previous ASCVD, high blood pressure, increased body mass index, active smoking, low-density lipoprotein cholesterol, and Lp(a) levels. To examine risk prediction, the identified risk factors were included in a SAFEHEART-RE risk equation with a Harrell's C-index of 0.85, which was compared with the modified Framingham risk equation, and the American College of Cardiology/American Heart Association ASCVD Pooled Cohort Risk Equations. Harrell's C-index for these models were 0.81, 0.78, and 0.8, respectively, and differences between the SAFEHEART-RE and the other two were significant (p = 0.023 and p = 0.045).

Conclusions:

The authors concluded that the risk of incident ASCVD may be estimated in FH patients using simple clinical predictors. This finding may improve risk stratification and could be utilized to guide therapy in patients with FH.

Perspective:

The large cohort allows for the examination of risk among patients with FH. Further study is warranted to test these risk prediction models in other populations with FH.

Clinical Topics: Diabetes and Cardiometabolic Disease, Dyslipidemia, Prevention, Homozygous Familial Hypercholesterolemia, Lipid Metabolism, Nonstatins, Primary Hyperlipidemia, Hypertension, Smoking

Keywords: Atherosclerosis, Body Mass Index, Cholesterol, LDL, Dyslipidemias, Hypercholesterolemia, Hyperlipoproteinemia Type II, Hypertension, Metabolic Syndrome X, Myocardial Infarction, Primary Prevention, Registries, Risk Factors, Smoking, Stroke


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