Key result
Inpatient genetic testing targets ~10% diagnostic yield for familial hypercholesterolemia in early-onset ACS.
Why the study?
Familial hypercholesterolemia is the most common inherited cardiovascular disorder but remains highly underdiagnosed and undertreated worldwide.
Does opportunistic hospital-based genetic testing for familial hypercholesterolemia increase new FH diagnoses and improve lipid-lowering treatment intensification compared to standard of care in patients under 60 years old hospitalized with acute coronary syndrome?
Does opportunistic hospital-based genetic testing for familial hypercholesterolemia increase new FH diagnoses and improve lipid-lowering treatment intensification compared to standard of care in patients under 60 years old hospitalized with acute coronary syndrome?
This study design paper outlines the first prospective controlled clinical trial evaluating the diagnostic yield and clinical utility of opportunistic genetic testing for familial hypercholesterolemia in young patients hospitalized with acute coronary syndrome.
Familial hypercholesterolemia (FH) is an inherited condition characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature atherosclerotic cardiovascular disease (ASCVD). Despite being the most common inherited cardiovascular disorder, it is still highly underdiagnosed and undertreated worldwide. We designed the Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia (ACCURATE) study to test the hypothesis that opportunistic genetic testing for FH among patients hospitalized for acute coronary syndrome (ACS) will increase the diagnosis of FH and improve patient outcomes. ACCURATE is a non-randomized, controlled trial of patients <60 years old admitted to an acute cardiac unit with ACS and elevated LDL-C levels. The first cohort will consist of a control group of patients presenting with ACS who will be treated according to usual standard-of-care. The second cohort will consist of patients presenting with ACS in whom research-based genetic testing for FH will be performed during hospitalization and the results returned to the treating physicians. The primary endpoint will be the number of patients with a new diagnosis of FH. The secondary endpoints will be the proportion of patients who undergo intensification of lipid-lowering therapy, the lowest LDL-C level achieved, and the proportion of patients reaching guideline recommended lipid targets in the 12 months after the index ACS. To our knowledge, ACCURATE represents the first clinical trial of genetic testing for FH in the acute cardiac care setting and is expected to help identify optimal approaches to increase the diagnosis and treatment of FH.
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Peng et al. (2022) studied Familial hypercholesterolemia in patients hospitalized with acute coronary syndrome (STEMI or NSTEMI) (n=250). Research-based genetic testing for familial hypercholesterolemia (targeted sequencing of LDLR, APOB, PCSK9 and 28-SNV polygenic risk score) with results returned to treating physicians vs. Usual standard-of-care without research-based genetic testing was evaluated on Number of patients with a new diagnosis of familial hypercholesterolemia (defined by a pathogenic/likely pathogenic DNA variant or clinical diagnosis via Dutch Lipid Clinic Network criteria or Canadian Definition of FH).
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