[Controversies in familial dyslipidemias and cardiovascular genetics in 2026]

Although familial dyslipidemias are rarer than polygenic or more common causes, it is important not to overlook them, as they are associated with an increased risk of premature cardiovascular disease. Early screening and management, focused on lifestyle and risk factor avoidance, improve the prognosis. The diagnosis and treatment of suspected familial hyperlipidemia are complex. A LDL-cholesterol level of 4.9 mmol/L is not necessarily indicative of familial dyslipidemia, but further clarification of the etiology is required. The age at which treatment should be started and the treatment targets remain controversial. Traditional risk scores are unsuitable, but more specific ones can aid in diagnosis. Polygenic risk scores can better stratify at-risk patients.