Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia
This is the first large pediatric HeFH cohort study from Türkiye and provides data on both genetic background and treatment outcome. Despite genetic confirmation, significant gaps remain in early diagnosis, treatment acceptance, and long-term follow-up. Both atorvastatin and pitavastatin proved to be safe and effective. These results suggest a need for national screening programmes, family education, dietary counselling, and consistent follow-up.
Authors
- Mahmut Çöker (ORCID: https://orcid.org/0000-0001-6494-9539)
- Sedef Alpdoğan (ORCID: https://orcid.org/0000-0002-9157-9892)
- Yasemin Atik Altınok (ORCID: https://orcid.org/0000-0001-5851-1012)
- Haluk Akın (ORCID: https://orcid.org/0000-0003-1733-5555)
- Havva Yazıcı (ORCID: https://orcid.org/0000-0002-2564-7420)
- Sema Kalkan Uçar (ORCID: https://orcid.org/0000-0001-9574-7841)
- Ebru Canda (ORCID: https://orcid.org/0000-0002-9175-1998)
- Merve Yoldaş Çelik (ORCID: https://orcid.org/0000-0003-0015-9807)
- Fehime Erdem (ORCID: https://orcid.org/0000-0002-5597-9290)
- Ayça Aykut (ORCID: https://orcid.org/0000-0002-1460-0053)
- Ayşe Yüksel Yanbolu
- Esra Er
- Sakina Mammadova
Institutions
- Izmir University (TR)
- University of Health Science (KH)
- Ege University (TR)
- Dr. Behçet Uz Çocuk Hastalıkları Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Journal of Clinical Research in Pediatric Endocrinology
- Published
- 2025-08-28
- DOI
- https://doi.org/10.4274/jcrpe.galenos.2025.2025-7-15
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00