Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Familial hypercholesterolemia (FH) is an underdiagnosed genetic disorder.
• Acute coronary syndrome (ACS) patients often present with dyslipidemia.
• Early detection of FH in ACS can prevent recurrent cardiovascular events.

Purpose of the Study:

• To determine the prevalence of familial hypercholesterolemia (FH) in patients experiencing acute coronary syndrome (ACS).
• To assess the utility of LDL-C levels as a screening marker for FH in ACS patients.

Main Methods:

• Retrospective analysis of 15 ACS patients admitted between January 2020 and January 2021.
• Utilized LDL-C levels (cut-off ≥ 4.5 mmol/L) and the Dutch Lipid Clinic Network Score for FH assessment.
• Collected data from medical history and patient follow-up records.

Main Results:

• The study included predominantly male patients (93%) with a mean age of 61 years.
• Median LDL cholesterol at admission was 5.14 mmol/L, significantly decreasing to 2.27 mmol/L at follow-up (p=0.001).
• Using the Dutch Lipid Clinic Network Score, 1 patient (6.7%) had definite FH and 2 patients (13.3%) had probable FH, necessitating triple therapy in 2 cases.

Conclusions:

• An LDL-C level of 4.5 mmol/L or higher in ACS patients warrants screening for familial hypercholesterolemia.
• The prevalence of FH in ACS patients may be underestimated, highlighting the need for targeted screening protocols.
• Implementing FH screening in ACS populations can lead to timely diagnosis and appropriate management, potentially reducing cardiovascular risk.