Preventive cardiologyEvaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia☆
Section snippets
Methods
FH was diagnosed clinically using published, objective LDL cholesterol and clinical criteria shown to have 98% positive predictive value compared with DNA-based diagnoses.4, 5 All available patients with FH ≥18 years old in the Utah Make Early Diagnoses–Prevent Early Deaths registry (estimated to include 20% to 25% of patients with FH living in Utah) were invited for participation in this study by mail and phone follow-up. Over 90% of those invited agreed to participate.
This study comprised 68
Results
There were 262 patients with FH ≥30 years old included in this analysis of early onset CAD. A comparison of clinical characteristics among the 68 FH cases (22 women, 46 men) with early onset CAD and the 194 patients with FH (128 women, 66 men) without clinically evident CAD is presented in Table 1. Ages of the cases ranged from 30 to 74 years, whereas the range for controls was 30 to 88 years. The oldest male control was 63 years old. All older controls were women. Average age of CAD onset was
Discussion
This study began with the expectation that well-established risk factors and several more recently suggested risk factors would increase the inherently high risk of our patients with FH, thus, contributing importantly to risk prediction. Similarly, we expected carotid intima-medial thickness measurements to be strongly associated with coronary risk in these patients. Not surprisingly, we did find age and gender to be strongly associated with early onset CAD among our patients with FH. The
Acknowledgements
We greatly appreciate the work of our staff, including Mike McGinty for his outstanding laboratory work, Laurie Hokanson for her recruitment efforts, clinic assistance, and ultrasonography, Karen Nielsen for ultrasonography, and the MEDPED staff for their help with recruitment.
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This study was supported by grant R01 HL47561 from the National Heart, Lung, and Blood Institute, Bethesda, Maryland.