Familial Hypercholesterolemia: A Case Report

Introduction Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused by mutations in several genes involved in low-density lipoprotein (LDL) metabolism [1, 2]. It is characterized by an isolated increase in LDL cholesterol and is associated with a high risk of premature cardiovascular disease [3]. This condition is often underdiagnosed and undertreated, especially in resource-limited countries where genetic testing is less accessible [4]. We report the case of a patient with familial hypercholesterolemia complicated by severe cardiovascular disease.

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Zenodo (CERN European Organization for Nuclear Research)
Published
2025-12-26
DOI
https://doi.org/10.5281/zenodo.18223857
Primary Topic
Lipoproteins and Cardiovascular Health
Type
article
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article

Familial Hypercholesterolemia: A Case Report

Gorgi K, Chaouche M
Zenodo (CERN European Organization for Nuclear Research)
Lipoproteins and Cardiovascular Health
article

Familial Hypercholesterolemia: A Case Report

Gorgi K, Chaouche M
article en

Abstract

Introduction Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused by mutations in several genes involved in low-density lipoprotein (LDL) metabolism [1, 2]. It is characterized by an isolated increase in LDL cholesterol and is associated with a high risk of premature cardiovascular disease [3]. This condition is often underdiagnosed and undertreated, especially in resource-limited countries where genetic testing is less accessible [4]. We report the case of a patient with familial hypercholesterolemia complicated by severe cardiovascular disease.

Zenodo (CERN European Organization for Nuclear Research)
Mohamed I University (MA), Hôpital Ibn Sina-Rabat (MA), Ibn Sina Hospital (KW)
Openalex Percentile: Top 24%
Lipoproteins and Cardiovascular Health
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