Prevalence and management of familial hypercholesterolaemia in patients with chest pain admitted to hospital: a...

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Familial hypercholesterolaemia (FH) causes lifelong high LDL-C levels, significantly increasing the risk of premature ischaemic heart disease (IHD).
• Assessing FH prevalence and treatment status in IHD patients is vital for improving cardiovascular outcomes.

Purpose of the Study:

• To determine the prevalence of FH among patients admitted for IHD.
• To evaluate the lipid-lowering therapy and treatment goal achievement in these patients.

Main Methods:

• Retrospective, register-based observational study.
• Inclusion of 2797 patients discharged with IHD from Copenhagen hospitals (2012-2016).
• Analysis of LDL-C levels at admission to identify potential, probable, or definite FH.

Main Results:

• The prevalence of potential FH was 7.7% (1:13), and probable/definite FH was 6.8% (1:15).
• Among patients with premature IHD (<55 years men, <60 years women), 20.0% had potential FH and 3.1% had probable/definite FH.
• No patients were diagnosed with FH, and almost none achieved their LDL-C treatment goals.

Conclusions:

• There is a significant underdiagnosis of FH in patients hospitalized with IHD.
• Lack of FH diagnosis occurs even in younger patients or those with prior cardiovascular events.
• Improved recognition and management of FH are essential for preventing recurrent cardiovascular events.