Abstract:
INTRODUCTION: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 high-field magnetic resonance imaging (MRI) after long-term intensive treatment are unknown. METHODS:In a case control study, five patients with homozygous FH (one male and four females; mean age: 23.6 +/- 9.2, range: 12-36 years; mean pre-treatment serum total cholesterol level: 26.9 +/- 3.24 mmol/L; all patients with documented atherosclerotic plaques in the carotid arteries) and five age- and sex-matched healthy controls were studied. All patients had been on maximal lipid-lowering medication since early childhood, and four of them were also on treatment with low-density lipoprotein (LDL) apheresis at bi-weekly intervals. Brain MRI was performed at 3 Tesla field strength with fluid-attenuated T2-weighted inversion recovery and T1-weighted spin-echo MR pulse sequences and subsequently evaluated by two independent readers. RESULTS:The maximal lipid-lowering treatment reduced the total serum cholesterol by more than 50% in the patients, but their serum concentrations were still 3.6-fold higher than those found in the controls (11.9 +/- 4.2 vs. 4.5 +/- 0.5 mmol/L; p < 0.0047). No brain abnormality was observed in any of the patients with homozygous FH. CONCLUSION:Homozygous FH patients on intensive cholesterol-lowering therapy have no evidence of ischemic brain damage at 3 Tesla MRI despite the remaining high cholesterol levels.
journal_name
Neuroradiologyjournal_title
Neuroradiologyauthors
Schmitz SA,O'Regan DP,Fitzpatrick J,Neuwirth C,Potter E,Tosi I,Hajnal JV,Naoumova RPdoi
10.1007/s00234-007-0273-6subject
Has Abstractpub_date
2007-11-01 00:00:00pages
927-31issue
11eissn
0028-3940issn
1432-1920journal_volume
49pub_type
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