Journal of clinical research in pediatric endocrinology
Severe Familial Hypertriglyceridemia in a Child with Compound Heterozygous Pathogenic APOA5 Variants: A Case Report and Therapeutic Challenge.
Nikola Ilić, Jovana Krstić, Dimitrije Cvetković, Deana Bezbradica, Dragan Prokić, Staša Krasić, Vladislav Vukomanović, Adrijan Sarajlija
Published: 202510.4274/jcrpe.galenos.2025.2025-9-12
Abstract
Familial hypertriglyceridemia (FHTG) is a rare inherited lipid disorder that may present with severe phenotypes when caused by compound heterozygous or biallelic APOA5 variants. We report a male child diagnosed at 2.5 years of age with severe hypertr…
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