Relative protection from cerebral atherosclerosis of young patients with homozygous familial hypercholesterolemia

Alfredo Postiglione, Antonio Nappi, Arturo Brunetti, Andrea Soricelli, Paolo Rubba, Agostino Gnasso, Mario Cammisa, Vincenzo Frusciante, Claudio Cortese, Marco Salvatore, Giorgio Weber, Mario Mancini

Research output: Contribution to journalArticlepeer-review


It is well known that hypercholesterolemia is correlated with coronary atherosclerosis, but no definite information is available on its association with cerebrovascular atherosclerosis. We studied 10 young patients (age 3-32 years) with homozygous familial hypercholesterolemia (FH), together with 3 normal relatives as healthy controls. Extra- and intracranial Doppler examination, MRI and cerebral blood flow by SPECT and 99mTc-HM-PAO were performed on all. Six out of 10 patients already had signs and symptoms of coronary heart disease, but all patients were free from ischemic brain lesions, as small as detectable at MRI, and had normal cerebral blood flow. Two patients presented significant stenosis of the carotid arteries at Doppler examination. Young patients with homozygous FH have early and clinically evident coronary atherosclerosis, while overt disease in the cerebral district is delayed despite the extremely elevated plasma cholesterol concentration. This was also confirmed by the autopsy of two patients, who died after the study and whose cerebral arteries were totally free from atherosclerotic lesions. The age, at which flow-reducing atherosclerotic lesions develop in hypercholesterolemic patients, differs with regard to the arterial district involved.

Original languageEnglish
Pages (from-to)23-30
Number of pages8
Issue number1
Publication statusPublished - 1991


  • Atherosclerosis
  • Cerebrovascular disease
  • Familial hypercholesterolemia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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