Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome.
J Intern Med
; 284(6): 674-684, 2018 12.
Article
en En
| MEDLINE
| ID: mdl-29974534
ABSTRACT
BACKGROUND:
Familial hypercholesterolemia could be prevalent among patients with acute coronary syndrome.OBJECTIVE:
To investigate both the frequency of causative mutations for familial hypercholesterolemia (FH) and the optimal selection of patients for genetic testing among patients with an acute coronary syndrome (ACS).METHODS:
One hundred and sixteen patients with an ACS during 2009-2015 were identified through the SWEDEHEART registry. Patients who had either a high total cholesterol level ≥7 mmol L-1 combined with a triglyceride level ≤2.6 mmol L-1 , or were treated with lipid-lowering medication and had a total cholesterol level >4.9 mmol L-1 and a triglyceride level ≤2.6 mmol L-1 were included. Genetic testing was performed first with a regionally designed FH mutation panel (118 mutations), followed by testing with a commercially available FH genetic analysis (Progenika Biopharma).RESULTS:
A total of 6.9% (8/116) patients had a FH-causative mutation, all in the LDL-receptor. Five patients were detected on the panel, and further testing of the remaining 111 patients detected an additional 3 FH-causative mutations. Baseline characteristics were similar in FH-positive and FH-negative patients with respect to age, gender, prior ACS and diabetes. Patients with a FH-causative mutation had higher Dutch Lipid Clinical Network (DLCN) score (5.5 (5.0-6.5) vs 3.0 (2.0-5.0), P < 0.001) and a higher low-density lipoprotein level (5.7 (4.7-6.5) vs 4.9 (3.5-5.4), P = 0.030). The Dutch Lipid Clinical Network (DLCN) score had a good discrimination with an area under the curve of 0.856 (95% CI 0.763-0.949).CONCLUSION:
Genetic testing for FH should be considered in patients with ACS and high DLCN score.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
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Ácidos Cólicos
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Errores Congénitos del Metabolismo Esteroideo
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Síndrome Coronario Agudo
Tipo de estudio:
Etiology_studies
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Prognostic_studies
Límite:
Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Suecia