Abdoh Qusay, Darwish Abdalaziz, Alnees Mohammad, Awwad Mahdi, Najajra Duha, Alsadi Mai, Alawneh Maysa
Department of Medicine, Faculty of Medicine and Health Sciences.
Department of Internal Medicine, GI and Endoscopy Unit.
Ann Med Surg (Lond). 2024 Jan 5;86(3):1654-1658. doi: 10.1097/MS9.0000000000001588. eCollection 2024 Mar.
Portal vein thrombosis (PVT) is not commonly observed in patients, particularly those who have gone through neonatal intensive care unit (NICU) stays and had umbilical catheters. Although PVT can potentially cause hypertension and gastrointestinal bleeding it is highly unusual for this condition to manifest during childhood.
The authors present a case of a 10-year-old child who developed portal hypertension, esophageal varices, and multiple thrombophilia associated mutations. This child was born prematurely. Had to stay in the NICU, where an umbilical venous catheter was used which likely triggered the development of PVT. At the age of 7 he started experiencing distension, anemia and low platelet count, which eventually led to splenectomy. On at the age of 10 he began experiencing episodes of bleeding. Was diagnosed with esophageal varices and portal gastropathy. Through procedures, like Histoacryl glue injection and band ligation bleeding was successfully controlled. Genetic analysis revealed mutations associated with thrombophilia.
This case highlights how rare it is for older children to develop PVT and emphasizes the possibility of delayed onset symptoms following catheterization. The placement of catheters in NICUs can disrupt blood flow and increase the likelihood of clot formation. The presence of hypertension resulting from PVT can lead to complications such as varices. Effective control, over bleeding was achieved through interventions.Importantly, the presence of ACE I/D, FXIII Val34Leu, and Factor V Leiden mutations introduces an aspect to this scenario. It is worth noting that these mutations are not commonly linked to thrombophilia or clotting disorders.
This case highlights pediatric PVT, emphasizing the need for a collaborative approach among gastroenterologists, hematologists, and geneticists. Further research is required to understand PVT mechanisms and long-term implications, aiding in diagnosis and management, especially when it appears in late childhood. Evaluation is crucial in deciphering thrombophilia-related complications in the context of hypertension.
门静脉血栓形成（PVT）在患者中并不常见，尤其是那些曾入住新生儿重症监护病房（NICU）并使用过脐静脉导管的患者。尽管PVT可能会导致高血压和胃肠道出血，但这种情况在儿童期出现极为罕见。
作者报告了一例10岁儿童的病例，该儿童出现门静脉高压、食管静脉曲张以及多种与易栓症相关的突变。此儿童为早产儿，曾入住NICU，期间使用了脐静脉导管，这可能引发了PVT的发生。7岁时，他开始出现腹胀、贫血和血小板计数降低的症状，最终接受了脾切除术。10岁时，他开始出现出血发作，被诊断为食管静脉曲张和门静脉性胃病。通过如组织黏合剂注射和套扎术等操作，出血得到了成功控制。基因分析显示存在与易栓症相关的突变。
该病例凸显了大龄儿童发生PVT的罕见性，并强调了导管插入术后出现延迟症状的可能性。在NICU中放置导管会扰乱血流并增加血栓形成的可能性。PVT导致的高血压会引发诸如静脉曲张等并发症。通过干预措施成功实现了对出血的有效控制。重要的是，ACE I/D、FXIII Val34Leu和因子V莱顿突变的存在为该病例增添了一个因素。值得注意的是，这些突变通常与易栓症或凝血障碍并无关联。
该病例凸显了儿童PVT，强调了胃肠病学家、血液学家和遗传学家之间采取协作方法的必要性。需要进一步研究以了解PVT的机制及其长期影响，这有助于诊断和管理，尤其是当PVT出现在儿童晚期时。评估对于解读高血压背景下与易栓症相关的并发症至关重要。
