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ARTICLE TYPE : CASE SERIES

Published on :   08 Jan 2026, Volume - 1
Journal Title :   WebLog Journal of Endocrinology and Diabetes | WebLog J Endocrinol Diabetes
Source URL:   weblog iconhttps://weblogoa.com/articles/wjed.2026.a0810
Permanent Identifier (DOI) :  doi iconhttps://doi.org/10.5281/zenodo.18223858

Familial Hypercholesterolemia: A Case Report

Gorgi K 1 *
Chaouche M 2
1Department of Endocrinology and Metabolic Diseases, Ibn Sina University Hospital, Rabat, Morocco
2Department of Dermatology, Mohammed VI University Hospital, Agadir, Morocco

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.

Keywords: Familial Hypercholesterolemia (FH); Autosomal Dominant Disorder; LDLR Mutation; Dutch Lipid Clinic Network (DLCN) Criteria; Premature Coronary Artery Disease; Xanthomas; Xanthelasmas; Hyperlipidemia; Low-Density Lipoprotein Cholesterol (LDL-C); PCSK9 Inhibitors; Cascade Family Screening

Citation

Gorgi K, Chaouche M. Familial Hypercholesterolemia: A Case Report. WebLog J Endocrinol Diabetes. wjed.2026.a0810. https://doi.org/10.5281/zenodo.18223858
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