Authors: Stephan A Schmitz Declan P O’Regan Julie Fitzpatrick Clare Neuwirth Elizabeth Potter Isabella Tosi Joseph V Hajnal Rossi P Naoumova
Publish Date: 2007/07/21
Volume: 49, Issue: 11, Pages: 927-931
Abstract
Homozygous familial hypercholesterolemia FH is considered a model disease for excessive plasma cholesterol levels Patients with untreated homozygous FH have a markedly increased risk for premature atherosclerosis The frequency and extent of ischemic brain damage detectable by highfield magnetic resonance imaging MRI after longterm intensive treatment are unknownIn a case control study five patients with homozygous FH one male and four females mean age 236 ± 92 range 12–36 years mean pretreatment serum total cholesterol level 269 ± 324 mmol/L all patients with documented atherosclerotic plaques in the carotid arteries and five age and sexmatched healthy controls were studied All patients had been on maximal lipidlowering medication since early childhood and four of them were also on treatment with lowdensity lipoprotein LDL apheresis at biweekly intervals Brain MRI was performed at 3 Tesla field strength with fluidattenuated T2weighted inversion recovery and T1weighted spinecho MR pulse sequences and subsequently evaluated by two independent readersThe maximal lipidlowering treatment reduced the total serum cholesterol by more than 50 in the patients but their serum concentrations were still 36fold higher than those found in the controls 119 ± 42 vs 45 ± 05 mmol/L p 00047 No brain abnormality was observed in any of the patients with homozygous FH
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