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Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome
Author(s) -
Benedek P.,
Eriksson M.,
Duvefelt K.,
Freyschuss A.,
Frick M.,
Lundman P.,
Nylund L.,
Szummer K.
Publication year - 2018
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/joim.12812
Subject(s) - medicine , familial hypercholesterolemia , acute coronary syndrome , genetic testing , gastroenterology , diabetes mellitus , triglyceride , cholesterol , endocrinology , myocardial infarction
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.