Familial hypercholesterolemia (FH) is a common genetic metabolic condition that predisposes young individuals to premature cardiovascular disease (CVD) by impairing the metabolism of low-density lipoprotein cholesterol.1 The autosomal dominant disorder affects more than 20 million people around the world. While FH is increasingly common and treatable, it is estimated that less than 20% of affected individuals in the United States receive a diagnosis.2
Dr. Amit Khera, a professor and director of preventive cardiology at the University of Texas (UT) Southwestern Medical Center, discussed his team’s innovative approach to leveraging blood bank donations to address this screening gap at the American Society of Preventive Cardiology 2023 Congress on CVD Prevention.
Many of the proposed solutions to improving screening for FH rely on diagnosing patients who interact with health care settings in traditional ways, such as routine clinic visits. Blood banks provide an opportunity for large-scale screening of younger and generally healthy individuals.3 Carter BloodCare, a nonprofit organization based in Texas, participates in a donor health screening program through which it routinely measures total nonfasting serum cholesterol levels. Dr. Khera and his team at the UT Southwestern Medical Center used that data to identify individuals who met the criteria for FH.
Dr. Khera and colleagues applied the Make Early Diagnosis to Prevent Early Death criteria, which stratify screening cutoffs for cholesterol level by age to diagnose FH. They found that 28.8% of the more than 1 million donors met the criteria for the diagnosis of FH. Notably, there was a greater prevalence for individuals younger than 30 years of age.4
The improvement in overall screening for FH and the potential to diagnose FH at earlier stages provide distinct opportunities to reduce the risk for premature CVD in a high-risk population.5 Dr. Khera and his team demonstrated that there is significant potential in utilizing blood donation programs as an adjunct to screening for diseases such as FH.
FH is a common disease that is currently underdiagnosed and, as a result, undertreated despite the existence of novel targeted therapeutics. Next steps include creating a focused program that can integrate family history and connect screened individuals with health care providers who have expertise with FH. This unique and far-reaching approach can provide a promising solution to diagnosing not only FH, but also other common diseases.
Dr. Shivani Hanchate is a resident at the University of Virginia and served as a CardioNerds Conference Scholar during the American Society of Preventive Cardiology 2023 Congress on CVD Prevention.
- Gidding SS, Champagne MA, de Ferranti SD, et al; American Heart Association Atherosclerosis, Hypertension, and Obesity in Young Committee of Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and Council on Lifestyle and Cardiometabolic Health. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-2192. doi:10.1161/CIR.0000000000000297
- Nordestgaard BG, Chapman MJ, Humphries SE, et al; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45):3478-3490a. doi:10.1093/eurheartj/eht273
- Shaz BH, Kessler D, Hillyer CD. Evaluating the role of blood collection centers in public health: a status report. Transfus Med Rev. 2012;26(1):58-67. doi:10.1016/j.tmrv.2011.07.002
- Jackson CL, Keeton JZ, Eason SJ, et al. Identifying familial hypercholesterolemia using a blood donor screening program with more than 1 million volunteer donors. JAMA Cardiol. 2019;4(7):685-689. doi:10.1001/jamacardio.2019.1518
- Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3):133-140. doi:10.1016/j.jacl.2011.03.001