Ortman Chelsey, Ortolani Elissa
Department of Pediatric Neurosciences, Ascension Dell Children's Medical Center, University of Texas at Austin, United States.
Department of Pediatrics, University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, United States.
Semin Pediatr Neurol. 2024 Dec;52:101167. doi: 10.1016/j.spen.2024.101167. Epub 2024 Nov 2.
Clinical manifestations of hereditary hemorrhagic telangiectasia (HHT) include vascular malformations of the skin, nasal mucosa, gastrointestinal tract, lungs, liver and central nervous system. These malformations range from punctate telangiectasias to larger arteriovenous malformations within visceral organs and the central nervous system. Vascular malformations increase risk for acute and chronic bleeding, anemia, as well secondary complications related to arterial-venous shunting. Diagnosis can be made with the Curaçao criteria, which includes the presence of epistaxis, telangiectasias, arteriovenous malformations, and first-degree family member with HHT. Nearly all patients with HHT will have a pathogenic variant in the ENG or ACVRL1 genes, while a smaller number will have a variant in SMAD4 or no clear genetic etiology. While there is no cure for HHT, medical management of vascular complications may include oral tranexamic acid and IV bevacizumab. Endovascular and surgical treatments are clinically indicated when the benefits outweigh the risks of the interventions.
遗传性出血性毛细血管扩张症（HHT）的临床表现包括皮肤、鼻粘膜、胃肠道、肺、肝脏和中枢神经系统的血管畸形。这些畸形范围从点状毛细血管扩张到内脏器官和中枢神经系统内较大的动静脉畸形。血管畸形会增加急性和慢性出血、贫血以及与动静脉分流相关的继发性并发症的风险。可根据库拉索标准进行诊断，该标准包括鼻出血、毛细血管扩张、动静脉畸形以及有HHT的一级家庭成员。几乎所有HHT患者在ENG或ACVRL1基因中都会有一个致病变异，而少数患者在SMAD4基因中有变异或没有明确的遗传病因。虽然HHT无法治愈，但血管并发症的药物治疗可能包括口服氨甲环酸和静脉注射贝伐单抗。当干预措施的益处大于风险时，临床上会采用血管内治疗和手术治疗。
