L'Huillier Romain, Garnaud Alexandre, Monneuse Olivier
Department of Medical Imaging, Edouard Herriot Hospital, Hospices Civils de Lyon, 69002 Lyon, France.
LabTAU, INSERM U1032, 69003 Lyon, France.
J Clin Med. 2024 Nov 6;13(22):6653. doi: 10.3390/jcm13226653.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, leading to recurrent epistaxis, cutaneous and mucosal telangiectases, and visceral arteriovenous malformations (AVMs). Hepatic involvement may result in complications such as high-output heart failure, portal hypertension, and biliary ischemia. We report an uncommon case of ischemic cholecystitis in a patient with HHT. A 57-year-old male with HHT type 1, including gastric telangiectases and hepatic AVMs, presented with anemia, melena, epigastric pain, and a history of recurrent epistaxis. Imaging revealed gastric telangiectases and liver AVMs, consistent with HHT. Following an episode of severe epistaxis and aspiration pneumonia, the patient developed right upper quadrant pain. Abdominal CT and ultrasound identified thickening of the gallbladder wall, segmental enhancement defects, and a perivesicular fluid effusion, suggestive of acalculous cholecystitis. A laparoscopic cholecystectomy was performed, revealing ischemic cholecystitis with necrotic gallbladder walls. This case underscores the potential for ischemic cholecystitis in patients with HHT and liver involvement, particularly under conditions of acute hemodynamic instability. Clinicians should be vigilant in recognizing this rare complication, especially in patients with established HHT and associated hepatic vascular anomalies.
遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性疾病,其特征为血管形成异常,导致反复鼻出血、皮肤和黏膜毛细血管扩张以及内脏动静脉畸形(AVM)。肝脏受累可能导致诸如高输出量心力衰竭、门静脉高压和胆管缺血等并发症。我们报告了1例HHT患者发生缺血性胆囊炎的罕见病例。一名57岁1型HHT男性患者,有胃毛细血管扩张和肝脏AVM,出现贫血、黑便、上腹部疼痛及反复鼻出血史。影像学检查显示胃毛细血管扩张和肝脏AVM,符合HHT表现。在一次严重鼻出血和吸入性肺炎发作后,患者出现右上腹疼痛。腹部CT和超声检查发现胆囊壁增厚、节段性强化缺损及胆囊周围液体积聚,提示无结石性胆囊炎。行腹腔镜胆囊切除术,结果显示为缺血性胆囊炎伴胆囊壁坏死。该病例强调了HHT合并肝脏受累患者,尤其是在急性血流动力学不稳定情况下发生缺血性胆囊炎的可能性。临床医生应警惕识别这种罕见并发症,尤其是在已确诊HHT及伴有肝脏血管异常的患者中。