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Identifying Familial Hypercholesterolemia Using Blood Donor Screening
Study Questions:
Would assessment of total cholesterol levels during blood donation procedures be helpful in identifying persons with familial hypercholesterolemia (FH)?
Methods:
This analysis used de-identified data from blood donors ages ≥16 years who donated to Texas Carter BloodCare between January 2002 and December 2016. The program routinely measures total nonfasting serum cholesterol levels as part of a donor health screening program. FH was defined using the Make Early Diagnosis to Prevent Early Death general population criteria, with total nonfasting serum cholesterol thresholds of 270, 290, 340, and 360 mg/dl for donors ages <20 years, 20-29 years, 30-39 years, and ≥40 years, respectively. For repeated donors, the maximum observed total cholesterol level was used for analyses.
Results:
During the 15-year period, 1,178,102 individual donors provided a total of 3,038,420 blood donations. Of all individual donors (median total cholesterol level, 183 mg/dl; median age, 32 years; 52.6% women), a total of 3,473 individuals (or 1 in every 339) met criteria for FH. This group had median total cholesterol of 332 (interquartile range, 297-377) mg/dl. Estimated prevalence was higher at younger ages (<30 years: 1:257) compared with older ages (≥30 years: 1:469; p < 0.001) and in men (1:327) compared with women (1:351; p = 0.03). Among 2,219 repeated donors who met FH criteria at least once, 3,116 of 10,833 total donations (28.8%) met FH criteria.
Conclusions:
The prevalence of FH in a large cohort of blood donors was similar to the estimated prevalence of this disorder in the general population. The blood donor screening program could be a novel strategy to detect and notify individuals with potential FH.
Perspective:
Donors in this study have online access to results, but few do, particularly the younger cohort. There has been a considerable effort to create public awareness of the importance of FH, including the American Heart Association, American College of Cardiology, National Lipid Association, and Familial Hypercholesterolemia Foundation, who created the CASCADE FH registry to assist patients and families. Despite the efforts, patients referred to our lipid clinic with a low-density lipoprotein cholesterol of >160 mg/dl and family history of premature coronary artery disease have rarely been informed by the referring physicians that they may have FH that has implications to themselves and their first-degree relatives.
Clinical Topics: Diabetes and Cardiometabolic Disease, Dyslipidemia, Prevention, Atherosclerotic Disease (CAD/PAD), Lipid Metabolism, Nonstatins, Primary Hyperlipidemia
Keywords: Blood Donors, Cholesterol, Cholesterol, LDL, Coronary Artery Disease, Donor Selection, Dyslipidemias, Hyperlipoproteinemia Type II, Lipids, Primary Prevention
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