We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Genetic testing for familial hypercholesterolemia in acute coronary syndromes.
- Authors
Saleh, Navid; Brunham, Liam R.
- Abstract
Familial Hypercholesterolemia (FH) is a highly prevalent genetic cardiovascular disorder affecting an estimated one in 311 individuals and characterized by increased low-density lipoprotein cholesterol (LDL-C). Patients with FH have an elevated risk of atherosclerotic cardiovascular disease (ASCVD). If left untreated, 50% of men and 32% of women with FH develop ASCVD by age 60. Importantly, numerous patients under 60 years of age presenting with a premature ACS have undiagnosed FH. Despite its prevalence, FH is highly underdiagnosed worldwide. Genetic testing and cascade screening for FH are powerful tools in addressing the current gap in FH underdiagnosis. Genetic testing is currently recognized as the gold standard diagnostic tool in widely accepted validated diagnostic criteria for FH. First-degree relatives of patients identified to have FH can be screened with molecular and genetic testing in a process known as cascade screening.
- Subjects
ACUTE coronary syndrome; FAMILIAL hypercholesterolemia; GENETIC testing; LDL cholesterol; CARDIOVASCULAR diseases
- Publication
UBC Medical Journal, 2022, Vol 13, Issue 2, p16
- ISSN
1920-7425
- Publication type
Article