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. 2024 Apr 30;10(9):e30487.
doi: 10.1016/j.heliyon.2024.e30487. eCollection 2024 May 15.

Ocular manifestations of severe familial hypercholesterolemia

Alaa Bou Ghannam  1 , Rachid Istambouli  1 , Mohamed S Hamam  1 , Jean M Chalhoub  1 , Akl C Fahed  2 , Rola N Hamam  1
Affiliations

Ocular manifestations of severe familial hypercholesterolemia

Alaa Bou Ghannam et al. Heliyon. .

Abstract

Background: To study ocular manifestations of patients with severe familial hypercholesterolemia (FH).

Methods: In this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial Hypercholesterolemia Registry, along with age and gender-matched healthy controls were recruited. All participants underwent a comprehensive eye examination, and patients underwent fluorescein angiography as well. Logistic regression models were used to identify any association between patients with severe familial hypercholesterolemia and abnormal eye findings, while adjusting for hypertension and pack-year smoking. The main outcome measure of this study was the development of ocular vascular abnormalities.

Results: 28 patients and 28 controls were recruited. Patients with severe familial hypercholesterolemia had significantly greater odds of developing corneal arcus and xanthelasmas than the control group (p < 0.001). Retinal vascular abnormalities (plaques) were exclusively and more significantly present in patients with familial hypercholesterolemia (18 %). Similarly, retinal arteriosclerosis was exclusively and significantly more prevalent in the familial hypercholesterolemia group (p < 0.001, adjusted odds ratio 6.8). Stratification by LDL levels and genotypes did not show any significant change in the prevalence of any ocular finding.

Conclusion: In addition to the well-established increase in incidence of corneal arcus and xanthelasmas, severe familial hypercholesterolemia patients have more prevalent retinal vascular abnormalities that include vascular plaques and arteriosclerosis.

Keywords: Corneal arcus; Fluorescein angiography; Hypercholesterolemia; Retinal vascular abnormalities.

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Conflict of interest statement

No conflicting relationship exists for any author.

Figures

Fig. 1
Fig. 1
A. Corneal Arcus in a patient with severe familial hypercholesterolemia B. A case of a branch retinal artery occlusion (BRAO) observed in a small nasal branch of the retinal artery in fundus fluorescein angiography (FA) C. A case of Grade I retinal arteriosclerosis by Sheie classification with a visible Hollenhorst plaque in fundus photography (FP) D. A case of Grade II retinal arteriosclerosis by Sheie classification in fundus photography (FP).
See this image and copyright information in PMC

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