Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia
Makaleler > Tam Makale · 2026
Yazarlar: Havva YAZICI, ESRA ER, FEHİME ERDEM KARAPINAR, Ayşe YÜKSEL YANBOLU, SAKİNA MAMMADOVA, SEDEF ALPDOĞAN, MERVE YOLDAŞ ÇELİK, YASEMİN HANDE ATİK ALTINOK, Ebru CANDA, Ayça AYKUT, Haluk AKIN, Sema KALKAN UÇAR, Mahmut ÇOKER
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2026, cilt 18, ss 74-84
DOI: 10.4274/jcrpe.galenos.2025.2025-7-15
Özet
Objective: Familial hypercholesterolemia (FH) is an inherited metabolic disorder that increases cardiovascular risk from childhood. Despite its frequency, pediatric diagnosis and treatment remain limited, particularly in developing countries. Methods: . Clinical features, treatment responses, statin use, and adverse events were assessed and a comparative analysis was conducted between different statin types. Results: variants were identified. Among treated patients, atorvastatin led to a greater median low density lipoprotein-cholesterol (LDL-C) reduction. A higher (though not statistically significant) proportion of pitavastatin users achieved LDL-C targets. LDL-C reduction was positively correlated with baseline LDL-C levels. For the majority of patients, statins were well tolerated; five patients had transient creatine kinase elevations that resolved with treatment interruption. Conclusion: 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.