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Familial Hypercholesterolemia: A Case Report

Year: 2025

Type: article

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.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.18223857

Authors: Gorgi K, Chaouche M

Institution: Centre Hospitalier Ibn Sina

Language: English

Topic: Lipoproteins and Cardiovascular Health

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7123839996

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