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Ocular manifestations of severe familial hypercholesterolemia

Alaa Bou Ghannam1, Rachid Istambouli1, Mohamed S Hamam1

  • 1Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

Heliyon
|May 13, 2024
PubMed

Insights

Severe familial hypercholesterolemia (FH) patients show increased risks of corneal arcus, xanthelasmas, and retinal vascular issues like plaques and arteriosclerosis. These findings highlight the importance of eye exams for FH patients.

Area of Science:

  • Ophthalmology
  • Cardiology
  • Genetics

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder leading to high cholesterol levels.
  • Severe FH significantly increases cardiovascular risk.
  • Ocular manifestations in severe FH are not fully understood.

Purpose of the Study:

  • To investigate ocular manifestations in patients with severe familial hypercholesterolemia (FH).
  • To identify specific eye abnormalities associated with severe FH.
  • To compare ocular findings in FH patients with healthy controls.

Main Methods:

  • A population-based case-control study involving 28 severe FH patients and 28 matched controls.
  • Comprehensive eye examinations and fluorescein angiography for FH patients.
  • Logistic regression analysis adjusted for hypertension and smoking to assess associations.

Main Results:

  • Severe FH patients had significantly higher odds of corneal arcus and xanthelasmas (p < 0.001).
  • Retinal vascular plaques were exclusively found in 18% of FH patients.
  • Retinal arteriosclerosis was significantly more prevalent in FH patients (aOR 6.8, p < 0.001).

Conclusions:

  • Severe FH is associated with increased prevalence of corneal arcus and xanthelasmas.
  • Retinal vascular abnormalities, including plaques and arteriosclerosis, are more common in severe FH.
  • Ocular findings in severe FH extend beyond known signs, emphasizing the need for comprehensive eye evaluations.
Abstract

Keywords:
Corneal arcusFluorescein angiographyHypercholesterolemiaRetinal vascular abnormalities

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