Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.

ABSTRACT: Background/Objectives: The clinical presentation of homozygous familial hypercholesterolemia (HoFH) and severe heterozygous familial hypercholesterolemia (sHeFH) often demonstrates substantial overlap, as low-density lipoprotein cholesterol (LDL-C) levels may fall within similar ranges in both conditions. Methods: In this single-center 10-year retrospective study at the University of Debrecen, Hungary, we present the clinical characteristics of patients with 6 HoFH and 6 sHeFH diagnosed by genetic testing, discuss the diagnostic limitations encountered in clinical practice, and outline the key components of therapeutic management. Results: The mean age at diagnosis was lower in the HoFH group (31.83 ± 19.5 vs. 41.83 ± 15.9 years). The differences in total cholesterol (

SUBMITTER: Nadro B 

PROVIDER: S-EPMC12653393 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature