Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Basit Öğe Kaydı
dc.contributor.authorKose, Engin
dc.contributor.authorKose, Melis
dc.contributor.authorOzturk, Sureyya Ipek
dc.contributor.authorOzcan, Esra
dc.contributor.authorOnay, Huseyin
dc.contributor.authorOzkan, Behzat
dc.date.accessioned2020-12-01T11:57:56Z
dc.date.available2020-12-01T11:57:56Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractObjectives: Premature 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-lowering treatments, and the challenges of treatments in children diagnosed with FH. Methods: Patients diagnosed with FH in the pediatric metabolism outpatient clinic were retrospectively evaluated. Changes in lipid profile with dietary interventions and statin treatments were assessed. the results of cascade screening were analyzed. Results: Fifty-one patients diagnosed with FH were enrolled in the study. Twenty-four (47.1%) were female. the mean age of the patients was 9.8 +/- 3.2 years. Heterozygous LDLR gene mutation was detected in all patients. Three novel pathogenic variations were revealed with the genetic investigation. Forty-one (80.4%) patients had high adherence to CHILD-2 dietary recommendations. the mean low-density lipoprotein cholesterol (LDL-C) level decreased by 14.5 +/- 7.6% after dietary intervention. Parents refused to start statin treatment in 8 (15.7%) patients. Statin treatment was initiated to 22 (43.1%) patients. Mean LDL-C level decreased from 204.1 +/- 19.1 mg/dL to 137.0 +/- 13.1 mg/dL. in cascade screening, 7 (13.7%) parents without a diagnosis of FH were diagnosed with FH. After the screening program, statin treatment was initiated for 18 (35.3%) parents and 7 (16.3%) siblings. Conclusions: We can conclude that screening for FH in children is crucial for diagnosing FH not only in children but also in their relatives. Although statins are safe and effective in achieving the target LDL-C level, we determined significant resistance for initiating statin treatment in patients.en_US
dc.identifier.doi10.1515/jpem-2020-0234en_US
dc.identifier.endpage1256en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue10en_US
dc.identifier.pmid32829317en_US
dc.identifier.scopus2-s2.0-85091078031en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1251en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2020-0234
dc.identifier.urihttps://hdl.handle.net/11454/61866
dc.identifier.volume33en_US
dc.identifier.wosWOS:000583043000002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectchildrenen_US
dc.subjectfamilial hypercholesterolemiaen_US
dc.subjectlow-fat dieten_US
dc.subjectstatinen_US
dc.titleCascade screening and treatment of children with familial hypercholesterolemia in Turkeyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu