Hypertriglyceridaemia: an update.

Area of Science:

• Biochemistry
• Genetics
• Cardiology

Background:

• Triglycerides (TGs) are a key component of lipid profiles, and elevated levels are linked to increased cardiovascular disease (CVD) risk via triglyceride-rich lipoproteins.
• While many TG elevations are secondary, primary hypertriglyceridaemia syndromes necessitate identification and specific management strategies.

Purpose of the Study:

• To highlight the importance of identifying primary hypertriglyceridaemia syndromes.
• To discuss diagnostic approaches beyond standard lipid profiles.
• To outline current and novel therapeutic interventions for managing elevated TGs.

Main Methods:

• Review of current literature on hypertriglyceridaemia.
• Discussion of diagnostic tools including genetic testing (apoE genotype, next-generation sequencing).
• Overview of management strategies encompassing lifestyle, conventional lipid-lowering drugs, and novel therapeutics.

Main Results:

• Primary hypertriglyceridaemia encompasses genetic conditions like familial combined hyperlipidaemia and familial chylomicronaemia syndrome.
• Standard lipid profiles are insufficient for detailed diagnosis; advanced assays are often required.
• Patients with TGs >10 mmol/L need thorough characterization and tailored interventions.

Conclusions:

• Accurate diagnosis of primary hypertriglyceridaemia is crucial for effective patient management.
• A multi-faceted approach including diet, medication, and potentially novel therapies is essential.
• Extreme cases, particularly chylomicronaemia syndromes, constitute medical emergencies requiring immediate specialist care.