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Universal screening for familial hypercholesterolemia in childrenKlančar, Gašper, 1988- ...Background: Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications compared with those who are unaffected. Data for ... identification of FH with a universal screening for hypercholesterolemia in children are lacking. Objectives: This study sought genetic identification of FH from a cohort of children with elevated serum total cholesterol (TC) concentration, detected in a national universal screening for hypercholesterolemia. Methods: Slovenian children born between 1989 and 2009 (n = 272) with TC >6 mmol/l (231.7 mg/dl) or >5 mmol/l (193.1 mg/dl) plus a family history positive for premature cardiovascular complications, identified in a national universal screening for hypercholesterolemia at 5 years of age were genotyped for variants in LDLR, PCSK9, APOB, and APOE. Results: Of the referred children, 57.0% carried disease-causing variants for FH: 38.6% in LDLR, 18.4% in APOB, and none in PCSK9. Nine novel disease-causing variants were identified, 8 in LDLR, and 1 in APOB. Of the remaining participants, 43.6% carried the APOE E4 isoform. Estimated detection rate of FH in the universal screening program from 2009 to 2013 was 53.6% (95% confidence interval [CI]: 34.5% to 72.8%), peaking in 2013 with an upper estimated detection rate of 96.3%. Variants in LDLR, APOB, or the APOE E4 isoform occurred in 48.6%, 60.0%, and 76.5%, respectively, of patients with a family history negative for cardiovascular complications. Conclusions: Most participants who were referred from a national database of universal screening results for hypercholesterolemia had genetically confirmed FH. Data for family history may not suffice for reliable identification of patients through selective and cascade screening.Source: Journal of the American College of Cardiology. - ISSN 0735-1097 (Vol. 66, iss. 11, Sep. 2015, str. 1250-1257)Type of material - article, component part ; adult, seriousPublish date - 2015Language - englishCOBISS.SI-ID - 32206809
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source: Journal of the American College of Cardiology. - ISSN 0735-1097 (Vol. 66, iss. 11, Sep. 2015, str. 1250-1257)
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Klančar, Gašper, 1988- | 34575 |
Grošelj, Urh | 33868 |
Kovač, Jernej, 1983- | 32181 |
Bratanič, Nevenka | 01314 |
Bratina, Nataša, medicina, 1964- | 13409 |
Trebušak Podkrajšek, Katarina | 20253 |
Battelino, Tadej | 13023 |
Source: Personal bibliographies
and: SICRIS
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