Schmitz Stephan A, O'Regan Declan P, Fitzpatrick Julie, Neuwirth Clare, Potter Elizabeth, Tosi Isabella, Hajnal Joseph V, Naoumova Rossi P
Imaging Sciences Department, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK.
Neuroradiology. 2007 Nov;49(11):927-31. doi: 10.1007/s00234-007-0273-6. Epub 2007 Jul 21.
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.
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.
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.
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.
纯合子家族性高胆固醇血症（FH）被视为血浆胆固醇水平过高的典型疾病。未经治疗的纯合子FH患者过早发生动脉粥样硬化的风险显著增加。长期强化治疗后，通过高场磁共振成像（MRI）检测到的缺血性脑损伤的频率和程度尚不清楚。
在一项病例对照研究中，对5例纯合子FH患者（1例男性和4例女性；平均年龄：23.6±9.2岁，范围：12 - 36岁；治疗前血清总胆固醇水平平均为：26.9±3.24 mmol/L；所有患者颈动脉均有动脉粥样硬化斑块记录）和5名年龄及性别匹配的健康对照者进行了研究。所有患者自幼儿期起就接受最大程度的降脂药物治疗，其中4例还每两周接受一次低密度脂蛋白（LDL）单采治疗。在3特斯拉场强下，采用液体衰减反转恢复序列和T1加权自旋回波磁共振脉冲序列进行脑部MRI检查，随后由两名独立的阅片者进行评估。
最大程度的降脂治疗使患者的血清总胆固醇降低了50%以上，但他们的血清浓度仍比对照组高3.6倍（11.9±4.2与4.5±0.5 mmol/L；p < 0.0047）。在任何纯合子FH患者中均未观察到脑部异常。
尽管胆固醇水平仍然很高，但接受强化降脂治疗的纯合子FH患者在3特斯拉MRI检查中没有缺血性脑损伤的证据。
