Genetic Testing and Hyperlipidemia | Harvard Medical School Continuing Education
What is the difference between race, ethnicity and ancestry in biomedical literature? Is there a heritable and molecular basis for hypercholesterolemia and what is the clinical role for familial genetic testing?
Dr. Pradeep Natarajan, MD, a cardiologist at Massachusetts General Hospital, explains the hereditary traits identified in familial hypercholesterolemia (FH) and the benefits of identifying FH through genetic testing. Hyperlipidemia, coronary artery disease and premature myocardial infarction are discussed.
00:00 | Introduction
00:41 | Definitions of race, ethnicity and ancestry
01:27 | The history and prevalence of familial hypercholesterolemia (FH)
05:06 | Diagnostic criteria and genetic determinants of FH
06:39 | Benefits of genetic testing for FH
10:31 | Beyond familial hypercholesterolemia
References:
Borrell LN, Elhawary JR, Fuentes-Afflick E, et al. Race and Genetic Ancestry in Medicine – A Time for Reckoning with Racism. N Engl J Med. 2021;384(5):474-480. doi:10.1056/NEJMms2029562
Flanagin A, Frey T, Christiansen SL; AMA Manual of Style Committee. Updated Guidance on the Reporting of Race and Ethnicity in Medical and Science Journals. JAMA. 2021;326(7):621-627. doi:10.1001/jama.2021.13304
GLENDY RE, LEVINE SA, WHITE PD. CORONARY DISEASE IN YOUTH: COMPARISON OF 100 PATIENTS UNDER 40 WITH 300 PERSONS PAST 80. JAMA. 1937;109(22):1775–1781. doi:10.1001/jama.1937.02780480007002
WILKINSON CF Jr, HAND EA, FLIEGELMAN MT. Essential familial hypercholesterolemia. Ann Intern Med. 1948;29(4):671-686. doi:10.7326/0003-4819-29-4-671
KHACHADURIAN AK. THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. Am J Med. 1964;37:402-407. doi:10.1016/0002-9343(64)90196-2
Natarajan, P, Musunuru K, Applications of genetics to cardiovascular medicine. In: Braunwald’s Heart Disease-E-Book: A Textbook of Cardiovascular Medicine. Elsevier Health Sciences, 2021.
Hu P, Dharmayat KI, Stevens CAT, et al. Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis. Circulation. 2020;141(22):1742-1759.
Nordestgaard BG, Chapman MJ, Humphries SE, et al. 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 [published correction appears in Eur Heart J. 2020 Dec 14;41(47):4517]. Eur Heart J. 2013;34(45):3478-90a. doi:10.1093/eurheartj/eht273
Benn M, Watts GF, Tybjærg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J. 2016;37(17):1384-1394.
Khera AV, Won HH, Peloso GM, et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016;67(22):2578-2589. doi:10.1016/j.jacc.2016.03.520
Sturm AC, Knowles JW, Gidding SS, et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol. 2018;72(6):662-680. doi:10.1016/j.jacc.2018.05.044
Sturm AC, Truty R, Callis TE, et al. Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. JAMA Cardiol. 2021;6(8):902-909. doi:10.1001/jamacardio.2021.1301
Aragam KG, Natarajan P. Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications. Circ Res. 2020;126(9):1159-1177. doi:10.1161/CIRCRESAHA.120.315928
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