Introduction: Hypertriglyceridemia (HTG) is one of the most common metabolic disorders
leading to pancreatitis and cardiovascular disease. HTG develops mostly due to impaired metabolism of
triglyceride-rich lipoproteins. Although monogenic types of HTG exist, most reported cases are polygenic
Aim: This review article is focused on the classification of Primary HTG and the genetic factors behind
its development with the aim of providing clinicians a useful tool for early detection of the disease in
order to administer proper and effective treatment.
Discussion: HTG is often characterized by a complex phenotype resulting from interactions between
genetic and environmental factors. In many instances, the complexity, perplexing causes, and classification
of HTG make it difficult for clinicians to properly diagnose and manage the disorder. Better
availability of information on its pathophysiology, genetic factors involved, environmental causes, and
their interactions could help in understanding such complex disorders and could support its effective
diagnosis and treatment.
Conclusion: The current review has summarized the case definition, epidemiology, pathophysiology,
clinical presentation, classification, associated genetic factors, and scope of genetic screening in the diagnosis
of primary HTG.