MRI at 3 Tesla detects no evidence for ischemic brain damage in intensively treated patients with homozygous familial hypercholesterolemia.
BACKGROUND
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.


CONCLUSIONS
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.
Schmitz
Stephan A
SA
Imaging Sciences Department, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK. stephan.schmitz@imperial.ac.uk
O'Regan
Declan P
DP
Fitzpatrick
Julie
J
Neuwirth
Clare
C
Potter
Elizabeth
E
Tosi
Isabella
I
Hajnal
Joseph V
JV
Naoumova
Rossi P
RP
D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001781:Blood Component Removal; D001921:Brain / Q000473:pathology*; D002545:Brain Ischemia / Q000209:etiology / Q000473:pathology / Q000517:prevention & control; D002340:Carotid Artery Diseases / Q000150:complications* / Q000473:pathology / Q000628:therapy; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000473:pathology* / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D008297:Male
D000924:Anticholesteremic Agents