Retinal findings in familial hypercholesterolemia: An exploratory case-control study

Background and aims Patients with familial hypercholesterolemia (FH) have elevated LDL-C levels from birth and increased risk of cardiovascular disease due to atherosclerosis, mostly affecting larger arteries. Less is known about effects of elevated LDL-cholesterol on smaller arteries. Retinal arterioles are prone to damage in the form of stiffening and thickening. We therefore explored the occurrence of retinal arteriolosclerosis in patients with genetically verified FH, and in a control group. Associations between retinal arteriolosclerosis and current serum lipid values, sex, age, statin treatment, and years on lipid-lowering treatment were also investigated. Methods Eligible patients were 40 to 70 years of age, normotensive, and non-smokers. Exclusion criteria were diabetes and vascular retinal disease. Control subjects had to have normal lipid levels and no history of cardiovascular disease. Lipid measurements were collected prior to the visit, and at the visit retinal fundus photographs of both eyes were taken. The fundus photographs were graded by two ophthalmologists according to the Scheie classification for retinal arteriolosclerosis. Results Fifty patients with FH and 30 control subjects participated. Mean duration of lipid-lowering medication for the patient group was 17.0 years. The control group had higher total cholesterol, LDL-C and HDL-C, ApoB and ApoA1 levels than the patient group. There were no differences in the occurrence of retinal arteriolosclerosis between the two groups, and no associations were found between current lipid levels, age, sex, statin treatment, years on LLT and retinal arteriolosclerosis. Conclusion Patients with FH did not have increased prevalence of retinal arteriolosclerosis compared to controls.