FAMILIAL COMBINED HYPERLIPIDEMIA: CURRENT KNOWLEDGE, PERSPECTIVES, AND CONTROVERSIES.

Area of Science:

• Cardiovascular Medicine
• Genetics
• Metabolic Disorders

Background:

• Familial combined hyperlipidemia (FCHL) is the most common primary dyslipidemia, yet frequently undiagnosed.
• FCHL presents with variable lipid profiles, including mixed hyperlipidemia, isolated hypercholesterolemia, or hypertriglyceridemia, often with elevated apolipoprotein B.
• It is an oligogenic disorder influenced by genetic variants and environmental factors.

Purpose of the Study:

• To review the current understanding of Familial Combined Hyperlipidemia (FCHL).
• To highlight controversies in FCHL definition and diagnosis.
• To identify research opportunities in FCHL epidemiology, genetics, pathophysiology, and management.

Main Methods:

• Literature review of studies on Familial Combined Hyperlipidemia (FCHL).
• Analysis of genetic associations, including USF1.
• Discussion of FCHL's link to comorbidities and cardiovascular risk.

Main Results:

• FCHL is associated with increased cardiovascular disease risk and comorbidities like type 2 diabetes and metabolic syndrome.
• Unique genetic traits link FCHL to other conditions with similar pathophysiology.
• Research on FCHL has declined, indicating a need for renewed investigation.

Conclusions:

• Familial combined hyperlipidemia (FCHL) requires better recognition due to its significant cardiovascular and metabolic impact.
• Further research is crucial for advancing FCHL diagnosis, understanding its genetic basis, and optimizing patient management.
• Targeted lipid-lowering therapies and cardiovascular risk reduction are essential for FCHL patients.