Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai Hospital, New York, New York, USA.
World Neurosurg. 2019 Jun;126:241-246. doi: 10.1016/j.wneu.2019.02.115. Epub 2019 Mar 7.
Cerebral cavernous malformations (CCMs) may be familial or nonfamilial. This systematic review compared the natural history of CCMs in familial compared with nonfamilial cases.
We searched MEDLINE, Web of Science, and EMBASE for natural history studies on CCMs up to September 2018. We included studies that followed at least 20 untreated patients. Primary outcomes were hemorrhage, seizures, and neuroimaging changes in familial and nonfamilial cases. Incidence rate per person-year (PY) or lesion-year (LY) of follow-up were used to pool the data using fixed-effects or random-effects models. We used the incidence rate ratio for comparison.
We could not compare hemorrhage rates between familial and nonfamilial cases mainly owing to mixtures of subgroups of patients. The seizure rate was similar in familial and nonfamilial cases with pooled incidence rate of 1.5%/PY (95% confidence interval 1.1%-2.2%). The reseizure rate was higher than the seizure rate (P < 0.001). New lesion development was higher in familial cases (32.1%/PY vs. 0.7%/PY, P < 0.001). Signal change on neuroimaging ranged from 0.2%/LY to 2.4%/LY in familial cases. In familial cases, incidence rate of size change was 8%/PY (95% confidence interval 5.2%-12.2%) and 1.1%/LY (95% confidence interval 0.6%-1.6%).
Familial CCMs show higher dynamic changes than nonfamilial cases. However, the presence of actual dynamic changes needs further assessment in nonfamilial cases. CCMs demonstrate a low incidence of seizure. First-time seizure increases the chance of recurrent seizure. Seizure rate based on the location and type of the lesion should be investigated further.
脑动静脉畸形（CAVM）可分为家族性或散发性。本系统综述比较了家族性与散发性 CAVM 的自然病史。
我们检索了 MEDLINE、Web of Science 和 EMBASE 中截至 2018 年 9 月的 CAVM 自然病史研究。我们纳入了至少随访 20 例未经治疗患者的研究。主要结局为家族性和散发性病例的出血、癫痫发作和神经影像学改变。使用固定效应或随机效应模型，采用人年（PY）或病变年（LY）发病率来汇总数据。我们使用发病率比进行比较。
我们无法比较家族性和散发性病例的出血率，主要是因为患者亚组的混杂。家族性和散发性病例的癫痫发作率相似，总发病率为 1.5%/PY（95%置信区间 1.1%-2.2%）。再发性癫痫的发生率高于癫痫发作（P<0.001）。家族性病例新病变发展发生率较高（32.1%/PY 比 0.7%/PY，P<0.001）。家族性病例神经影像学上的信号改变范围为 0.2%/LY 至 2.4%/LY。家族性病例中，病变大小变化的发病率为 8%/PY（95%置信区间 5.2%-12.2%）和 1.1%/LY（95%置信区间 0.6%-1.6%）。
家族性 CAVM 比散发性病例表现出更高的动态变化。然而，非家族性病例中需要进一步评估是否存在实际的动态变化。CAVM 的癫痫发作发生率较低。首次癫痫发作增加了再次发作的机会。应进一步研究基于病变位置和类型的癫痫发作率。
