FH Diagnosis: It's LDL Alone

This week, we're diving into a hot topic: familial hypercholesterolemia (FH). This common, yet underdiagnosed, genetic condition is a major driver of premature cardiovascular disease. ??

A recent study suggests we might be able to simplify FH diagnosis by focusing on a single off-treatment LDL cholesterol level of 190 mg/dL. ?? instead of complex clinical scores?

Key Points:

• FH Basics: Most common monogenic disorder. ?? Caused by mutations in genes controlling LDL metabolism (LDL receptor, APOB, PCSK9). Prevalence: Roughly 1 in 300 individuals, higher in the Middle East (1 in 200). ?? 1 in 30 patients with coronary disease may have FH.
• The Challenge of Diagnosis: Genetic testing is the gold standard, but costly. ?? The Dutch Lipid Clinic Network Score (DL CNS) is complex and often incomplete in real-world settings. ?? The study found that the DL CNS was incomplete and inconsistant.
• The LDL Alternative: An Austrian study showed that an off-treatment LDL >190 mg/dL performed well compared to the DL CNS. ? Simpler approach, potentially increasing case identification.
• Considerations: Retrospective study in a specialized clinic; further research needed. ?? Further studies are needed to see the impact on diagnosis rates and cardiovascular outcomes. The 190 mg/dl cut off will increase false positives.

What does this mean for clinical practice?

Could we be moving towards a simpler, more efficient approach to FH screening? This study raises important questions about the practicality of current diagnostic tools. ??

Let's Discuss!

• Have you used the DL CNS in your practice? ??
• What are your thoughts on using LDL >190 mg/dL as a primary screening criterion? ??
• How do you manage FH patients with severe atherosclerosis? ??

Share your insights in the comments below! ??

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#Cardiology #FamilialHypercholesterolemia #FH #LDLCholesterol #CardioBuzz #MedicalResearch #Healthcare #PreventiveCardiology #Genetics #Lipidology ????