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Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome
Željka Dragila1,2, Matea Lozert3, Silvija Canecki-Varžić2,4
1Emergency Department, University Hospital Centre Osijek, Osijek, Croatia.
Insights
Familial hypercholesterolemia screening is crucial for acute coronary syndrome (ACS) patients with high LDL cholesterol. An LDL-C level of 4.5 mmol/L or higher indicates the need for further evaluation in ACS individuals.
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.
Abstract:
Aim To investigate the prevalence of familial hypercholesterolemia in patients with acute coronary syndrome (ACS). Methods The study included fifteen patients with first or repeated ACS and treated/nontreated dyslipidaemia admitted to the Department of Cardiovascular Diseases of Clinical Hospital Centre Osijek between 1 January 2020 and 1 January 2021. The cut-off value of low-density lipoprotein (LDL)-C was 4.5mmol/L as a possible cut-off value for familial hypercholesterolemia presence. Data were collected from medical history and during patient's follow-up. Results Included patients that fulfilled criteria were predominantly male - 14 (93%), mean age 61 years. The median level of LDL cholesterol at admission because of ACS was 5.14 mmol/L, whereas the follow-up level after one year was 2.27 mmol/L (p=0.001). At first follow-up, 7 (46%) patients were treated with atorvastatin 80 mg or rosuvastatin 40 mg, 3 (20%) atorvastatin 80mg + ezetimibe 10mg, 2 (13%) with rosuvastatin 40 mg+ ezetimibe 10 mg, other patients were treated with a lower dose of statin or ezetimibe. According to LDL-C profile and by calculating the Dutch Lipid Clinic Network Score, one (of 15) patient was categorized as having definite familial hypercholesterolemia and two (of 15) as having probable familial hypercholesterolemia leading to the use of triple hypolipidemic therapy (statin+ezetimibe+PCSK9 inhibitor) in 2 (13%) patients (one female and one male). Conclusion LDL-C level of 4.5 mmol/L and higher represents an indication for screening for familial hypercholesterolemia in patients with ACS. The prevalence of familial hypercholesterolemia in ACS, estimated by the Dutch Lipid Clinic Network Score, could be higher than previously reported.
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