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.
Authors
- Babak Bagheri (ORCID: https://orcid.org/0000-0002-5133-2481)
- Amir Hasan Farzaneh (ORCID: https://orcid.org/0000-0002-0854-8965)
- Fatemeh Shokri
Institutions
- Mazandaran University of Medical Sciences (IR)
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