EAS Consensus Panel proposes simplified approach to define and manage hypertriglyceridaemia
A European Atherosclerosis Society (EAS) Consensus Panel calls for a simplified approach to define hypertriglyceridaemia, based on new insights in the genetics and epidemiology of triglyceride pathways.
High triglyceride levels (>1.7 mmol/L or >150 mg/dL) affect about one-third of adults in Europe. Due to their causal role in cardiovascular disease, prompt diagnosis and treatment are essential. However, the variable clinical presentation, incomplete understanding of the aetiology and complex classification have hampered clinical practice.
Recent genetic studies have provided important insights: in >95% of cases, hypertriglyceridaemia reflects the cumulative burden of >30 genetic variants, both common variants associated with small effects and rare variants associated with large effects on plasma triglycerides. Rare autosomal recessive single gene (monogenic) hypertriglyceridaemia results from mutations in 6 different genes associated with triglyceride production and catabolism.
Considering this, the EAS Consensus Panel now proposes to simplify the definition of hypertriglyceridaemia to 2 categories:
- Mild to moderate hypertriglyceridaemia: plasma triglycerides 2-10 mmol/L (175-885 mg/dL). This category represents most patients and is explained by the cumulative burden of multiple genes, i.e. a multigenic or polygenic cause.
- Severe hypertriglyceridaemia: plasma triglycerides >10 mmol/L (>885 mg/dL). While a few patients have a single large-effect gene variant (i.e. monogenic cause), most have a polygenic susceptibility component often compounded by secondary factors.
The Panel also emphasises the importance of considering secondary causes of hypertriglyceridaemia, some of which may themselves be influenced by a genetic susceptibility component, such as obesity, metabolic syndrome, non-alcoholic fatty liver disease and diabetes.
For diagnosis, the Panel recommends a fasting lipid profile, although non-fasting measurements may also be of value. Biochemical screening and counselling of family members is important to elucidate familial factors, but routine genetic testing is not recommended.
The consensus document outlines management priorities, which depend on the hypertriglyceridaemia category. Consistent with current guidelines, the EAS Consensus Panel emphasises that lifestyle is the mainstay of managing elevated triglycerides, specifically reducing weight, improving diet, reducing alcohol intake and increasing physical activity.
‘Hypertriglyceridaemia represents a diagnostic and therapeutic challenge for many clinicians. The EAS Consensus Panel believes that this streamlined definition of hypertriglyceridaemia, taking into account recent epidemiologic, genetic and clinical evidence, will provide a simplified framework for clinicians in their routine practice to improve the diagnosis and management of this common dyslipidaemia,’ says Professor Robert A. Hegele, lead author of this Consensus Panel.
Hegele RA, Ginsberg HN, Chapman MJ, et al., on behalf of the European Atherosclerosis Society Consensus Panel. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management. Lancet Diabetes Endocrinol Free to download from 31 January – 28 February 2014