Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia

This case highlights the diagnostic challenges of HoFH in resource-limited settings and underscores the importance of clinical criteria when genetic testing is inaccessible. Aggressive lipid-lowering therapy, including PCSK9 inhibitors, is essential for managing HoFH and mitigating cardiovascular risk. Early recognition of physical signs (e.g., xanthomas and corneal arcus) and family screening are crucial for timely intervention.

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Publication Details

Journal
Case Reports in Medicine
Published
2025-01-01
DOI
https://doi.org/10.1155/carm/2255274
Primary Topic
Lipoproteins and Cardiovascular Health
Type
article
Field-Weighted Citation Impact
0.00
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article

Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia

Babak Bagheri, Amir Hasan Farzaneh, Fatemeh Shokri
Case Reports in Medicine
Lipoproteins and Cardiovascular Health
article

Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia

Babak Bagheri, Amir Hasan Farzaneh, Fatemeh Shokri
article en

Abstract

This case highlights the diagnostic challenges of HoFH in resource-limited settings and underscores the importance of clinical criteria when genetic testing is inaccessible. Aggressive lipid-lowering therapy, including PCSK9 inhibitors, is essential for managing HoFH and mitigating cardiovascular risk. Early recognition of physical signs (e.g., xanthomas and corneal arcus) and family screening are crucial for timely intervention.

Case Reports in MedicineVol. 2025(1)
Mazandaran University of Medical Sciences (IR)
Openalex Percentile: Top 57%
Lipoproteins and Cardiovascular Health
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