Why the study?
Familial combined hyperlipidemia is the most common genetic dyslipidemia and significantly increases the risk of atherosclerotic cardiovascular diseases, prompting an analysis of literature on its diagnosis, pathogenesis, and molecular genetics.
This literature review highlights the current understanding of familial combined hyperlipidemia and calls for larger, genetically diverse cohort studies to improve diagnosis and treatment strategies.
FCHL diagnostic criteria may guide current practice; leaves open genetic mechanisms pending larger diverse cohorts.
Among the various dyslipidemia types, familial combined hyperlipidemia (FCH) is the most common genetic disorder, which is characterized by at least two different forms of lipid disorders: hypercholesterolemia and hypertriglyceridemia. In FCH, the risk of atherosclerotic cardiovascular diseases (CVDs), including at a young age, increases significantly. The aim was to analyze literature data on modern criteria for diagnosis, pathogenesis and data from molecular genetic studies of FCH. Future studies aimed at understanding the underlying genetic and metabolic mechanisms of FCH and developing effective treatment strategies should include larger cohort studies with greater genetic diversity, as well as investigation of epigenetic and lifestyle factors.
No takes yet. Share an insight, caveat, or question.
Тимощенко et al. (2024) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: