Can blood donation programs identify donors with genetic disorder for high cholesterol, coronary artery disease?

Bottom Line: This study examined whether a blood donation program could help identify individuals with the often undiagnosed genetic disorder familial hypercholesterolemia, which results in high cholesterol and premature coronary artery disease. Blood donation programs already screen for infectious diseases and may be able to screen for other conditions. This analysis included data from about 1.2 million donors who made a total of 3 million blood donations; total cholesterol levels were determined for these donations. The authors report that of these donors, 3,473 (1 of every 339) met the criteria for familial hypercholesterolemia, similar to estimates in the general population, which suggests blood donation programs may be a method for detecting and notifying donors with this disorder. A limitation of the study was the inability to determine whether there were other causes of hypercholesterolemia.

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Author: Amit Khera, M.D., M.Sc., University of Texas Southwestern Medical Center, Dallas, and coauthors

(doi:10.1001/jamacardio.2019.1518)

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