Makale detayı · 2026
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia
Journal of Clinical Research in Pediatric Endocrinology
- Yıl
- 2026
- ISSN
1308-5727- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
İngilizce (OpenAlex)
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.
Konular
- Lipoproteins and Cardiovascular Health
- Cholesterol and Lipid Metabolism
- Diabetes, Cardiovascular Risks, and Lipoproteins
Birincil konu Lipoproteins and Cardiovascular Health