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oai:repisalud.isciii.es:20.500.12105/79832024-09-27T08:00:20Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Amor-Salamanca, Almudena author Castillo, Sergio author Gonzalez-Vioque, Emiliano author Dominguez, Fernando author Quintana, Lucía author Lluís-Ganella, Carla author Escudier, Juan Manuel author Virues-Ortega, Javier author Lara-Pezzi, Enrique author Alonso-Pulpon, Luis author Garcia-Pavia, Pablo author 2017-10-03 BACKGROUND: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH). OBJECTIVES: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing. METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. Dutch Lipid Clinic (DLC) and Simon Broome (SB) FH clinical criteria were also applied. RESULTS: The prevalence of genetically confirmed FH was 8.7% (95% confidence interval [CI]: 4.3% to 16.4%; n = 9); 29% (95% CI: 18.5% to 42.1%; n = 18) of patients without FH variants had a score highly suggestive of polygenic hypercholesterolemia. The prevalence of probable to definite FH according to DLC criteria was 27.2% (95% CI: 19.1% to 37.0%; n = 28), whereas SB criteria identified 27.2% of patients (95% CI: 19.1% to 37.0%; n = 28) with possible to definite FH. DLC and SB algorithms failed to diagnose 4 (44%) and 3 (33%) patients with genetically confirmed FH, respectively. Cascade genetic testing in first-degree relatives identified 6 additional individuals with FH. CONCLUSIONS: The prevalence of genetically confirmed FH in patients with ACS age ≤65 years and with LDL-C levels ≥160 mg/dl is high (approximately 9%). FH clinical algorithms do not accurately classify patients with FH. Genetic testing should be advocated in young patients with ACS and high LDL-C levels to allow prompt identification of patients with FH and relatives at risk. J Am Coll Cardiol. 2017; 70(14):1732-1740 0735-1097 http://hdl.handle.net/20.500.12105/7983 28958330 10.1016/j.jacc.2017.08.009 1558-3597 Journal of the American College of Cardiology Dutch Lipid Clinic Simon Broome criteria Cholesterol Genetics Low-density lipoprotein cholesterol Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome