Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli studi della Campania "Luigi Vanvitelli", Napoli, Italy.
Neuroradiologia, Università degli Studi di Napoli "Federico II", Napoli, Italy.
Br J Haematol. 2019 May;185(4):733-742. doi: 10.1111/bjh.15834. Epub 2019 Mar 5.
Multi-factorial causes jeopardize brain integrity in β-thalassaemia. Intracranial parenchymal and vascular changes have been reported among young β-thalassaemia patients but conventional magnetic resonance imaging (MRI) findings are contradictory making early MRI and magnetic resonance angiography (MRA)/venography monitoring a matter of debate. This study prospectively investigated 75 neurologically asymptomatic β-thalassaemia patients (mean-age 35·2 ± 10·7 years; 52/75 transfusion-dependent; 41/75 splenectomised) using a 3T magnetic resonance scanner; clinical, laboratory and treatment data were also collected. White matter ischaemic-like abnormalities, intracranial artery stenoses, aneurysms and sinus venous thrombosis were compared between patients and 56 healthy controls (mean-age 33·9 ± 10·8 years). No patient or control showed silent territorial or lacunar strokes, intracranial artery stenoses or signs of sinus thrombosis. White matter lesions were found both in patients (35/75, 46·7%) and controls (28/56, 50·0%), without differences in terms of number (4·0 ± 10·6 vs. 4·6 ± 9·1, P = 0·63), size and Fazekas' Score. Intracranial aneurysms did not differ between patients and controls for incidence rate (7/75, 9·3% vs. 5/56, 8·9%), size and site. Vascular and parenchymal abnormality rate did not differ according to treatments or clinical phenotype. According to this study, asymptomatic β-thalassaemia patients treated according to current guidelines do not seem to carry an increased risk of brain and intracranial vascular changes, thus weakening recommendations for regular brain MRI monitoring.
多种因素导致β-地中海贫血患者脑损伤。已有报道称,年轻的β-地中海贫血患者存在颅内实质和血管变化,但常规磁共振成像(MRI)结果存在矛盾,使得早期 MRI 和磁共振血管造影(MRA)/静脉造影监测成为争议话题。本研究前瞻性调查了 75 例神经无症状β-地中海贫血患者(平均年龄 35.2±10.7 岁;52/75 例依赖输血;41/75 例脾切除术),使用 3T 磁共振扫描仪;还收集了临床、实验室和治疗数据。比较了患者和 56 名健康对照者(平均年龄 33.9±10.8 岁)之间的脑白质缺血样异常、颅内动脉狭窄、动脉瘤和静脉窦血栓形成。无患者或对照者出现无症状性区域性或腔隙性脑卒中、颅内动脉狭窄或静脉窦血栓形成迹象。患者(35/75,46.7%)和对照者(28/56,50.0%)均存在脑白质病变,但在病变数量(4.0±10.6 与 4.6±9.1,P=0.63)、大小和 Fazekas 评分方面无差异。颅内动脉瘤的发生率(7/75,9.3% vs. 5/56,8.9%)、大小和部位在患者和对照者之间无差异。血管和实质异常发生率与治疗或临床表型无关。根据本研究,按照现行指南治疗的无症状β-地中海贫血患者似乎没有增加脑和颅内血管变化的风险,因此削弱了定期脑 MRI 监测的建议。