[Familial hypercholesterolemia: involvement of cerebral major arteries (communication 1)]

Area of Science:

• Neurology
• Cardiology
• Genetics

Background:

• Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder leading to high cholesterol.
• Cardiocerebral complications are a significant concern in HeFH patients.

Purpose of the Study:

• To investigate cerebrovascular and cochleovestibular system alterations in HeFH patients.
• To correlate these findings with ischemic heart disease severity.

Main Methods:

• Ultrasound dopplerography and MR tomography for brain and cerebral artery assessment.
• Audiometry for cochleovestibular system evaluation.
• Study included 38 patients aged 16-63 with HeFH.

Main Results:

• Vascular disorders and white matter defects were observed in the brain.
• Transitory hypertension was associated with white matter defects.
• Cerebral atherosclerosis complications, including brain infarction and cochleovestibular alterations, aggravated ischemic heart disease.

Conclusions:

• HeFH patients exhibit significant cerebrovascular and cochleovestibular abnormalities.
• These vascular complications contribute to the progression of ischemic heart disease.
• Multidisciplinary management involving cardiology, neurology, and psychoneurology is crucial for preventing cardiocerebral complications in HeFH.