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Defining patients at extremely high risk for coronary artery disease in heterozygous familial hypercholesterolemia
Takako Sugisawa1, Tomonori Okamura, Hisashi Makino
1Division of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishiro-dai, Suita, Osaka, Japan.
Insights
High LDL-cholesterol (LDL-C) and Achilles tendon thickness (ATT) identify patients with familial hypercholesterolemia (FH) at very high risk for coronary artery disease (CAD). These markers help individualize treatment for FH patients to improve outcomes.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) significantly increases coronary artery disease (CAD) risk.
- Individualized risk assessment is crucial for managing FH patients.
- Prognosis in FH varies based on CAD risk and treatment.
Purpose of the Study:
- To identify critical levels of LDL-cholesterol (LDL-C) and Achilles tendon thickness (ATT).
- To stratify heterozygous FH patients into "very high" CAD risk categories.
Main Methods:
- Prospective follow-up of 109 heterozygous FH patients without prior CAD.
- Assessment of plasma lipid profiles and ATT before treatment.
- Multivariable logistic regression to correlate LDL-C and ATT with CAD development.
Main Results:
- Highest LDL-C tertile associated with 8.29-fold increased CAD risk.
- Highest ATT tertile associated with 7.82-fold increased CAD risk.
- LDL-C ≥ 260 mg/dL or ATT ≥ 14.5 mm indicated a 23.94-fold higher CAD risk.
Conclusions:
- Elevated LDL-C (≥ 260 mg/dL) and/or ATT (≥ 14.5 mm) are effective markers.
- These markers help identify heterozygous FH patients at "very high" risk for CAD.
- Facilitates personalized therapeutic strategies for FH management.
Aim:
Heterozygous patients with familial hypercholesterolemia (FH) are known to be associated with a high risk of coronary artery disease (CAD), which is a major determinant of their clinical outcome. The prognosis of heterozygous FH patients substantially varies, being dependent on the level of their CAD risk, and their therapeutic regimen should be individualized. We assessed critical levels of LDL-cholesterol (LDL-C) and Achilles tendon thickness (ATT) to identify heterozygous FH patients at "very high" risk for CAD.
Methods:
One hundred and nine heterozygous FH patients who had no history of CAD and had had their plasma lipid profile and ATT assessed before treatment were followed up until their first CAD event or 31 December 2010. Multivariable logistic regression models were used to analyze the correlation of LDL-C and/or ATT levels with the risk of developing CAD.
Results:
During the follow-up period, 21 of the 109 patients had a CAD event, diagnosed by coronary angiogram. Individuals in the highest tertile of LDL-C had a CAD risk 8.29-fold higher than those in the lowest tertile. Individuals in the highest tertile of the ATT group had a 7.82-fold higher CAD risk than those in the lowest tertile. Those who had either LDL-C ≥ 260 mg/dL or ATT ≥ 14.5 had a 23.94-fold higher CAD risk than those with LDL-C < 260 mg/dL and ATT <14.5 mm.
Conclusions:
In heterozygous FH patients, LDL-C 260 mg/dL or higher and/or ATT 14.5 mm or thicker are useful markers for extracting patients at "very high" risk for CAD.
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