Journal of clinical research in pediatric endocrinology · 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
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Yazıcı Havva, Er Esra, Erdem Fehime, Yüksel Yanbolu Ayşe, Mammadova Sakina, Alpdoğan Sedef, Yoldaş Çelik Merve, Atik Altınok Yasemin, Canda Ebru, Aykut Ayça, Akın Haluk, Kalkan Uçar Sema, Çoker Mahmut
Аннотация
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: Retrospective analysis of pediatric patients with genetically confirmed heterozygous FH (HeFH). Genetic testing included sequencing of the genes LDLR, APOB, and PCSK9. Clinical features, treatment responses, statin use, and adverse events were assessed and a comparative analysis was conducted between different statin types.
RESULTS: Among the cohort of 124 patients only 28.2% of patients were diagnosed via routine lipid screening, though 90.3% had a positive family history. After diagnosis, 16.1% declined treatment and 41.1% were lost to follow-up. Most genetic diagnoses involved pathogenic LDLR variants; only a few cases involved APOB and PCSK9. Three novel LDLR 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.
METHODS: Retrospective analysis of pediatric patients with genetically confirmed heterozygous FH (HeFH). Genetic testing included sequencing of the genes LDLR, APOB, and PCSK9. Clinical features, treatment responses, statin use, and adverse events were assessed and a comparative analysis was conducted between different statin types.
RESULTS: Among the cohort of 124 patients only 28.2% of patients were diagnosed via routine lipid screening, though 90.3% had a positive family history. After diagnosis, 16.1% declined treatment and 41.1% were lost to follow-up. Most genetic diagnoses involved pathogenic LDLR variants; only a few cases involved APOB and PCSK9. Three novel LDLR 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.