Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins

- ∼20% of patients with premature AMI has clinically diagnosed heterozygous FH.
- Patients with FH are undertreated with currently available lipid lowering drugs.
- FH patients with AMI have a high recurrence rate of cardiac events.
- All young coronary patients should be routinely screened for FH.

Background and aimsFamilial hypercholesterolaemia (FH) is an important cause of early onset coronary artery disease. We assessed the prevalence of clinical heterozygous FH (HeFH) among patients with very early ST-segment elevation myocardial infarction (STEMI), its management and its impact on long-term prognosis in the era of widespread utilization of statins.MethodsWe recruited prospectively 320 consecutive patients who had survived their first STEMI ≤35 years of age. Using the Dutch Lipid Clinic Network algorithm patients having HeFH (possible, probable or definite) were identified.ResultsSixty-five patients (20.3%) had definite/probable HeFH and 163 patients (50.9%) had possible FH. Two years after discharge among 51 patients with definite/probable HeFH and available lipid levels, 43 (84.3%) were taking statins of whom 10 (23.3%) were on high-intensity statin therapy but only 1 (2.3%) of the statin-treated patients had LDL cholesterol levels <1.8 mmol/L (70 mg/dL). After a median follow-up of 9.1 years, major adverse coronary events (MACE) occurred in 99 (38.8%) of 255 patients with available follow-up information. Definite/probable HeFH was associated with an excess risk for recurrence of MACE independently of statin use, continuation of smoking after the STEMI, hypertension, diabetes mellitus, and sex (hazard ratio = 1.615, 95% confidence interval, 1.038 to 2.512, p = 0.03).ConclusionsOne out of five patients who develop STEMI ≤35 years of age has definite/probable HeFH and despite the use of statins there is a therapeutic gap and a high recurrence rate of cardiac events during long-term follow-up.