遗传性出血性毛细血管扩张症的神经血管表现：15年间376例连续病例系列
Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years.
作者信息
Brinjikji W, Iyer V N, Yamaki V, Lanzino G, Cloft H J, Thielen K R, Swanson K L, Wood C P
机构信息
From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.)
Pulmonary and Critical Care Medicine (V.N.I., V.Y.).
出版信息
AJNR Am J Neuroradiol. 2016 Aug;37(8):1479-86. doi: 10.3174/ajnr.A4762. Epub 2016 Mar 24.
BACKGROUND AND PURPOSE
Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.
MATERIALS AND METHODS
Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.
RESULTS
Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin (ENG) mutations and 12.5% in activin receptor-like kinase (1ACVRL1) mutations.
CONCLUSIONS
Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.
背景与目的
遗传性出血性毛细血管扩张症与多种神经血管异常相关。本研究旨在明确遗传性出血性毛细血管扩张症患者脑血管病变的范围，包括脑动静脉畸形，并研究脑动静脉畸形与人口统计学变量、基因突变以及其他器官中动静脉畸形的存在之间的关联。
材料与方法
纳入2001年至2015年在本机构接受脑部磁共振成像/磁共振血管造影（MR imaging/MRA）、CT血管造影（CTA）或数字减影血管造影（DSA）的确诊遗传性出血性毛细血管扩张症的连续患者。所有研究均由2名资深神经放射科医生重新评估，以确定脑动静脉畸形、颅内动脉瘤和非分流性病变的存在、特征、位置和数量。脑动静脉畸形分为高流量软脑膜瘘、巢型脑动静脉畸形和毛细血管血管畸形，并给予Spetzler-Martin评分。我们研究了基线临床和基因突变状态与脑动静脉畸形的存在/多发性之间的关联。
结果
纳入376例确诊遗传性出血性毛细血管扩张症患者。48例患者（12.8%）发现110处脑动静脉畸形，26例患者有多处脑动静脉畸形。其中包括51处巢型脑动静脉畸形（46.4%）、58处毛细血管血管畸形（52.7%）和1处软脑膜动静脉瘘（0.9%）。5例（10.4%）单发巢型脑动静脉畸形患者出现出血。在脑动静脉畸形中，88.9%（88/99）的Spetzler-Martin评分为≤2。患有脑动静脉畸形的患者更可能为女性（75.0%对57.6%，P = .01）且有遗传性出血性毛细血管扩张症家族史（95.8%对84.8%，P = .04）。内皮素（ENG）基因突变患者脑动静脉畸形的患病率为19.7%，激活素受体样激酶（1ACVRL1）基因突变患者为12.5%。
结论
我们对376例遗传性出血性毛细血管扩张症患者的研究表明脑动静脉畸形的患病率很高。巢型脑动静脉畸形和毛细血管血管畸形的发生数量大致相等。
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