The Dutch Lipid Clinic Network (DLCN) criteria for familial hypercholesterolemia is a diagnostic tool designed to identify patients with familial hypercholesterolemia (FH), a genetic disorder characterized by high cholesterol levels, specifically elevated levels of low-density lipoprotein cholesterol (LDL-C). This tool is particularly useful in stratifying patients into categories of definite, probable, or possible FH, which can guide clinicians in tailoring appropriate management strategies.
The DLCN criteria incorporate a range of factors, including family history, clinical history, physical examination findings, LDL-C levels, and DNA analysis. Each of these components is assigned a specific point value, and the total score determines the likelihood of FH.
Family history is evaluated based on the presence of premature coronary or vascular disease in first-degree relatives or the presence of tendinous xanthomata and/or arcus cornealis. Clinical history focuses on the patient's history of premature coronary artery disease (CAD) or cerebral or peripheral vascular disease. Physical examination findings of tendinous xanthomata or arcus cornealis before age 45 years are also considered.
LDL-C levels are a critical component of the DLCN criteria. Higher LDL-C levels correspond to a higher point value, reflecting the strong association between elevated LDL-C levels and FH. The highest point value is assigned to LDL-C levels equal to or greater than 8.5 mmol/L (325 mg/dL).
DNA analysis, which involves identifying functional mutations in the LDLR, apoB, or PCSK9 genes, is another key component of the DLCN criteria. The presence of such mutations is strongly indicative of FH and is assigned the highest point value.
The total score derived from these components determines the likelihood of FH. A score greater than 8 meets the criteria for definite FH, a score of 6 or more meets the criteria for probable FH, and a score of 3 or more meets the criteria for possible FH. If the score is less than 3, the criteria for FH are not met.
Reference
François Mach, Colin Baigent, Alberico L Catapano et al. 2019 ESC / EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J. 2020 Jan 1;41(1):111-188.
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