McNally Bridgette B, Liu Margaret C, Lunsford Tisha, Horsley-Silva Jennifer, Swanson Karen, Byrne Thomas, Salomao Marcela, Smith Maxwell, Frazier Rosita
Department of Gastroenterology, Mayo Clinic Arizona, Phoenix, AZ.
Department of Pulmonology, Mayo Clinic Arizona, Phoenix, AZ.
ACG Case Rep J. 2025 Jun 4;12(6):e01707. doi: 10.14309/crj.0000000000001707. eCollection 2025 Jun.
Capillary malformation-arteriovenous type 2 syndrome (CM-AVM2) is a rare, genetic vascular disorder associated with abnormal capillary malformations and arteriovenous malformations. We present a case of CM-AVM2 with refractory diarrhea and failure to thrive due to aberrant, telangiectatic capillaries, and subepithelial collagen deposition found throughout the GI tract on bidirectional endoscopy. The patient was recalcitrant to standard therapies, so bevacizumab was trialed, but the patient expired. This is the first case of CM-AVM2 with diffuse GI mucosal involvement resulting in malabsorption. There is no treatment for this pathology, but treatment with bevacizumab or a mammalian target of rapamycin inhibitor may be efficacious.
毛细血管畸形-动静脉2型综合征（CM-AVM2）是一种罕见的遗传性血管疾病，与异常的毛细血管畸形和动静脉畸形相关。我们报告一例CM-AVM2患者，因双向内镜检查发现整个胃肠道存在异常的毛细血管扩张和上皮下胶原沉积，导致难治性腹泻和发育不良。该患者对标准治疗无效，因此试用了贝伐单抗，但患者最终死亡。这是首例CM-AVM2伴有弥漫性胃肠道黏膜受累导致吸收不良的病例。目前尚无针对这种病理状况的治疗方法，但使用贝伐单抗或雷帕霉素哺乳动物靶点抑制剂治疗可能有效。
