2020
DOI: 10.1515/jpem-2020-0234
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Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Abstract: ObjectivesPremature coronary artery disease is the most common preventable cause of death in developed countries, and familial hypercholesterolemia (FH) is the most common monogenetic disorder of lipid metabolism, predisposing for premature coronary artery. FH is the most common preventable cause of death in developed countries. In 2016, the national lipid screening program in school-age children has been started in Turkey. In this study, we aimed to evaluate the efficacy of lipid screening program, lipid-lowe… Show more

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Cited by 5 publications
(4 citation statements)
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“…When compared with previous studies on Turkish population, sequence analysis of all coding regions and intronic regions closer to the exons of LDLR revealed rare genetic variations in our population. [15][16][17][18][19][20] A total of 30 different variations were detected; in nearly 50% of all Functional studies demonstrated that this variation reduces the LDL receptor activity to <5% of the wild-type receptor's activity. 21 When the frequencies of mutations in the populations of Asia, Balkans, Cyprus, and Greece that are geographically close to Turkey were examined, this variation was not observed in the neighborhood populations, except in an Iranian population.…”
Section: Discussionmentioning
confidence: 99%
“…When compared with previous studies on Turkish population, sequence analysis of all coding regions and intronic regions closer to the exons of LDLR revealed rare genetic variations in our population. [15][16][17][18][19][20] A total of 30 different variations were detected; in nearly 50% of all Functional studies demonstrated that this variation reduces the LDL receptor activity to <5% of the wild-type receptor's activity. 21 When the frequencies of mutations in the populations of Asia, Balkans, Cyprus, and Greece that are geographically close to Turkey were examined, this variation was not observed in the neighborhood populations, except in an Iranian population.…”
Section: Discussionmentioning
confidence: 99%
“…However, genetic testing is not always needed in cascade screening because high LDL cholesterol levels and a positive family history are sufficient to clinch the diagnosis. In our experience, patients with heterozygous FH who were diagnosed via cascade screening exhibited a much better prognosis than the probands [ 49 ].…”
Section: Cascade Screening and Universal Screening For Fhmentioning
confidence: 99%
“…Некоторые страны только в последнее время акцентировали внимание на этой проблеме и стали создавать регистры пациентов с СГХС в своей популяции (Вьетнам, Турция) [15,20]. Это же касается и России [21].…”
Section: кардиологияunclassified