Engel Elissa R, Wusik Katie, Bright Philip, Vadivelu Sudhakar, Taylor J Michael, Hammill Adrienne
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
J Pediatr. 2024 Jan;264:113761. doi: 10.1016/j.jpeds.2023.113761. Epub 2023 Oct 4.
To investigate the prevalence and predictors of hereditary hemorrhagic telangiectasia (HHT) and capillary-malformation arteriovenous malformation (CM-AVM) syndrome among children with no prior personal or family history of these diseases who presented with an arteriovenous shunt lesion.
A retrospective chart review was completed on patients aged 0 through 21 years with arteriovenous shunt lesions evaluated at our Cerebrovascular Center. Diagnosis of definite or suspected HHT or CM-AVM was based on clinical features and genetic testing. Associations between final diagnosis and type and number of lesions, epistaxis, telangiectasias, CM, and pulmonary AVMs were assessed.
Eighty-nine patients were included. Thirteen (14.6%) had definite HHT, 11 (12.4%) suspected HHT, and 4 (4.5%) definite CM-AVM. Having ≥2 episodes of epistaxis/year and ≥ 2 sites with telangiectasias were each associated with definite HHT (P < .001). Having ≥ 2 CM was associated with definite CM-AVM (P < .001). Pulmonary AVM was associated with increased odds of having definite HHT (OR = 6.3, 95% CI: 1.2-33.4). Multiple lesions (OR = 24.5, 95% CI: 4.5-134.8) and arteriovenous fistulas (OR = 6.2, 95% CI: 1.9-20.3) each increased the likelihood of having definite HHT or CM-AVM. Genetic testing was positive in 31% of patients tested.
We recommend that children with neurovascular shunt lesions be offered genetic testing and undergo further evaluation for HHT and CM-AVM. Awareness and early diagnosis of these conditions is a critical step toward improving long-term outcomes and preventing disease-associated complications.
在无这些疾病个人或家族病史且出现动静脉分流病变的儿童中，调查遗传性出血性毛细血管扩张症（HHT）和毛细血管畸形 - 动静脉畸形（CM - AVM）综合征的患病率及预测因素。
对在我们脑血管中心接受评估的0至21岁患有动静脉分流病变的患者进行了回顾性病历审查。根据临床特征和基因检测对确诊或疑似HHT或CM - AVM进行诊断。评估最终诊断与病变类型和数量、鼻出血、毛细血管扩张、CM和肺动静脉畸形之间的关联。
纳入89例患者。13例（14.6%）确诊为HHT，11例（12.4%）疑似HHT，4例（4.5%）确诊为CM - AVM。每年鼻出血≥2次以及毛细血管扩张部位≥2处均与确诊HHT相关（P <.001）。CM≥2处与确诊CM - AVM相关（P <.001）。肺动静脉畸形与确诊HHT的几率增加相关（OR = 6.3，95%CI：1.2 - 33.4）。多处病变（OR = 24.5，95%CI：4.5 - 134.8）和动静脉瘘（OR = 6.2，95%CI：1.9 - 20.3）均增加了确诊HHT或CM - AVM的可能性。31%接受检测的患者基因检测呈阳性。
我们建议对患有神经血管分流病变的儿童进行基因检测，并对HHT和CM - AVM进行进一步评估。对这些疾病的认识和早期诊断是改善长期预后和预防疾病相关并发症的关键一步。
