The observation of retinal microvascular alterations in familial hypercholesterolemia patients through optical coherence tomography angiography.

PURPOSE: This study aimed to evaluate fundus microvascular alterations in patients with familial hypercholesterolemia (FH) using Optical Coherence Tomography Angiography (OCTA).

METHODS

We employed paired sample t-tests and Wilcoxon Signed-Rank Tests to compare vessel density (VD) and retinal ultrastructure between FH patients and healthy controls, as well as between homozygous FH (HoFH) patients and controls. The relationship between VDs, serum cholesterol levels, and clinical symptoms in the HoFH group was analyzed using Generalized Estimating Equation (GEE) analysis.

RESULTS

19 eyes from FH patients and 19 eyes from healthy controls were included. FH eyes exhibited a larger foveal avascular zone (FAZ) area (0.341 ± 0.111 vs. 0.275 ± 0.07; p = 0.031). VDs in the superficial capillary plexus (SCP) were significantly lower in the FH group for the whole image (49.59 ± 2.39% vs. 51.45 ± 2.03%; p = 0.018), as well as in the parafoveal and perifoveal areas (all p < 0.016). Conversely, VDs in the deep capillary plexus (DCP) subsectors were significantly increased (all p < 0.05). Total cholesterol (TC) levels were negatively correlated with VDs in the SCP (all p < 0.05), while high-density lipoprotein cholesterol (HDL-C) levels showed positive correlations with VDs in the radial peripapillary capillary (RPC) in the peripapillary area (odds ratio [OR] 4.22, 95% confidence interval [CI] 2.68 to 5.78, p < 0.001)). Higher DCP perifoveal VDs were associated with more severe cardiovascular symptoms (OR 2.67, 95% CI 0.33 to 5.01, p = 0.025).

CONCLUSION

FH patients exhibited significant microvascular alterations, with specific VDs correlating with serum cholesterol levels and cardiovascular symptoms in HoFH patients.