Abstract
Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that affects an estimated 1/250 persons in the United States and abroad. FH is hallmarked by high low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease. This review summarizes recent global evidence showing the utility of FH genetic testing across diverse populations. Clinical and other qualitative outcomes following FH genetic testing were improved FH diagnosis, treatment initiation or continued treatment, treatment modification, improved total or LDL cholesterol levels, education on lifestyle management, and genetic counseling. This summary of evidence should be considered by those seeking overall evidence and knowledge gaps on the utility of FH genetic testing from a global perspective and for certain ethnic and age populations. These findings can be used to inform insurance policies and coverage decisions for FH genetic testing, policy recommendations to reduce the clinical and public health burden of FH, clinical practice and guidelines to improve the management of FH populations, and ongoing research involving FH genetic testing. We conclude that further investigations are needed to examine: (1) non-clinical outcomes following FH genetic testing; (2) patient-reported outcomes following FH genetic testing to convey patient experiences, values, and goals; and (3) clinical outcomes following FH genetic testing in non-Caucasian and pediatric populations in the United States and abroad.
Highlights
Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that is associated with very high cholesterol levels (high cholesterol defined as total blood cholesterol (TC) > 200 mg/dL or 5.2 mmoL/L; low-density lipoprotein (LDL) cholesterol > 130 mg/dL or 3.4 mmoL/L) from birth [1,2,3]
We provide broader clarity on this clinical topic by presenting and highlighting recent evidence showing that FH genetic testing has led to improved FH diagnosis, clinical outcomes, and actionable outcomes among diverse populations globally
We examined age characteristics across all 21 studies (adult versus pediatric (≤18 years), or both) and found that the study populations consisted of mostly adult populations (92.5% of total clinically suspected cases that underwent FH genetic testing)
Summary
Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that is associated with very high cholesterol levels (high cholesterol defined as total blood cholesterol (TC) > 200 mg/dL or 5.2 mmoL/L; LDL cholesterol > 130 mg/dL or 3.4 mmoL/L) from birth [1,2,3]. It affects an estimated 1/250 persons in the United States (US); with variation among and across populations of certain ancestries or ethnicities [1,2,3]. Severe coronary artery disease (CAD) symptoms can manifest and include ischemic cardiomyopathy and highly premature fatal and non-fatal myocardial infarction, angina, and stroke [13,14]
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