Familial hypercholesterolemia in very young myocardial infarction

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Familial hypercholesterolemia (FH) is a significant, yet often unrecognized, cause of premature myocardial infarction (MI).
• Very young patients (VYPs, ≤35 years) with MI often present with undiagnosed FH, highlighting a gap in clinical recognition.
• Understanding FH prevalence and characteristics in VYPs is crucial for targeted cardiovascular risk reduction.

Purpose of the Study:

• To determine the prevalence and clinical patterns of FH in a cohort of VYPs presenting with their first MI.
• To assess the association between FH, coronary artery disease severity, and long-term cardiovascular outcomes in this population.
• To evaluate the impact of early lipid-lowering treatment on outcomes in FH patients with MI.

Main Methods:

• A cohort of 1,093 VYPs (≤35 years) with a first MI was enrolled.
• Clinical diagnosis of FH was established using the Dutch Lipid Clinic Network criteria.
• Coronary artery disease severity was quantified by Gensini score (GS), and patients were followed for a median of 40 months for major adverse cardiovascular events.

Main Results:

• The prevalence of definite/probable FH was 6.5% in VYPs with MI, rising to 10.3% in those ≤25 years.
• FH patients were younger, more likely to be classified as very high risk, and exhibited higher Gensini scores compared to unlikely FH.
• While overall event rates were similar, FH patients on lipid-lowering medication showed significantly improved outcomes (6.5% vs. 10.5%) compared to untreated patients.

Conclusions:

• FH is a prevalent condition among young adults experiencing myocardial infarction, particularly in the youngest subgroup (≤25 years).
• Early diagnosis and initiation of lipid-lowering therapy are critical for mitigating cardiovascular risk and improving prognosis in FH patients with MI.
• Systematic screening for FH in VYPs with MI is warranted to prevent recurrent cardiovascular events.