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Evaluation of cognitive profile and subclinical vascular damage in subjects with genetically confirmed familial

Sabrina Scilletta1, Nicoletta Miano1, Maurizio Di Marco1

  • 1Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

European Journal of Internal Medicine
|September 16, 2025
PubMed

Insights

Familial hypercholesterolemia (FH) is linked to cognitive impairment, with higher vascular damage markers like pulse wave velocity (PWV) and intima-media thickness (IMT) found in affected individuals. This suggests subclinical vascular damage contributes to cognitive decline in FH patients.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Familial hypercholesterolemia (FH) involves high LDL cholesterol, accelerating atherosclerosis.
  • The relationship between elevated LDL cholesterol and cognitive impairment requires further investigation.
  • This study examines cognitive impairment prevalence in FH patients and its link to vascular damage.

Purpose of the Study:

  • To assess cognitive impairment prevalence in genetically confirmed FH subjects.
  • To investigate the association between cognitive function and subclinical vascular damage in FH.
  • To identify factors contributing to cognitive decline in FH patients.

Main Methods:

  • A cross-sectional study of 253 FH subjects (18-75 years) without prior cognitive disorders.
  • Cognitive function assessed using the Short Blessed Test (SBT), stratifying into normal (NC) and impaired (IC) cognition groups.
  • Vascular parameters including pulse wave velocity (PWV) and intima-media thickness (IMT) were measured.

Main Results:

  • The impaired cognition (IC) group was older and had higher hypertension rates and DLCN scores.
  • Significantly elevated PWV and IMT were observed in the IC group compared to the normal cognition (NC) group.
  • Cognitive impairment was independently associated with increased PWV (OR 1.32 [1.06-1.66], p = 0.012).

Conclusions:

  • FH patients with cognitive impairment show increased PWV and IMT.
  • Subclinical vascular damage appears to be an independent factor in cognitive decline among FH subjects.
  • These findings highlight the importance of vascular health in maintaining cognitive function in FH.
Abstract

Keywords:
Arterial stiffnessCardiovascular riskCognitive impairmentFamilial hypercholesterolemiaSubclinical vascular damage

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