Yang Yang, Chen Qiong
Department of Gastroenterology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College, Huazhong University of Science & Technology Wuhan, Hubei, China.
Front Pediatr. 2025 Jul 2;13:1573544. doi: 10.3389/fped.2025.1573544. eCollection 2025.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant genetic disorder characterized by multiple gastrointestinal juvenile polyps. Endoscopic polypectomy is the primary therapeutic approach, minor post-polypectomy bleeding is the most common complication. We report an exceptional case of massive hemorrhage (approximately 400 ml) in a child with JPS.The cause of the post-polypectomy bleeding was relatively rare and was ultimately diagnosed as von Willebrand disease (VWD).
A six-year-old girl with JPS and no prior bleeding history underwent endoscopic polypectomy for 11 colorectal polyps.Laboratory tests showed normal platelet count, activated partial thromboplastin time (APTT), prothrombin time (PT), and plasma fibrinogen levels. However, approximately 70 hours after endoscopic polypectomy, she developed hematochezia with significant blood loss (approximately 400 ml). Emergent endoscopic findings did not support technical complications (e.g., clip dislodgement) as the primary etiology of the post-polypectomy hemorrhage.Genetic testing identified a mutation in the von Willebrand factor (VWF) gene [c.1707(exon14)delC, heterozygous], leading to a diagnosis of type 1 von Willebrand disease, which subsequently led to the unexpected post-polypectomy bleeding.
The rare case of juvenile polyposis syndrome with von Willebrand disease in a child underscores the necessity of taking extrinsic gastrointestinal factors into account when delayed post-polypectomy bleeding arises following endoscopic polypectomy. Clinicians ought to be watchful for coagulation disorders, such as VWD, which might be manifested through atypical clinical symptoms. Timely identification of the cause of delayed post-polypectomy bleeding can improve prognosis.
幼年性息肉病综合征（JPS）是一种罕见的常染色体显性遗传病，其特征为胃肠道多发幼年性息肉。内镜下息肉切除术是主要的治疗方法，息肉切除术后少量出血是最常见的并发症。我们报告一例JPS患儿发生大量出血（约400毫升）的特殊病例。息肉切除术后出血的原因相对罕见，最终诊断为血管性血友病（VWD）。
一名6岁患JPS且无既往出血史的女孩因11个结直肠息肉接受了内镜下息肉切除术。实验室检查显示血小板计数、活化部分凝血活酶时间（APTT）、凝血酶原时间（PT）和血浆纤维蛋白原水平均正常。然而，在内镜下息肉切除术后约70小时，她出现便血且失血量大（约400毫升）。急诊内镜检查结果不支持技术并发症（如夹子移位）是息肉切除术后出血的主要病因。基因检测发现血管性血友病因子（VWF）基因存在突变[c.1707（外显子14）delC，杂合子]，导致诊断为1型血管性血友病，这随后导致了意外的息肉切除术后出血。
该例儿童幼年性息肉病综合征合并血管性血友病的罕见病例强调，在内镜下息肉切除术后出现延迟性息肉切除术后出血时，有必要考虑外在的胃肠道因素。临床医生应警惕可能通过非典型临床症状表现出来的凝血障碍，如VWD。及时识别延迟性息肉切除术后出血的原因可改善预后。
