Shimizu Tetsuya, Yoshida Hiroshi, Taniai Nobuhiko, Yoshioka Masato, Kawano Yoichi, Matsushita Akira, Ueda Junji, Iwai Takuma, Murokawa Takahiro, Ono Takashi, Hamaguchi Akira
Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
Intractable Rare Dis Res. 2024 Feb;13(1):63-68. doi: 10.5582/irdr.2023.01106.
Extrahepatic portal vein obstruction (EHPVO) is a rare disease. Most EHPVO patients are usually referred to a gastroenterologist for intestinal bleeding and hypersplenic thrombocytopenia; however, hypercoagulative diseases may be occult in these patients and require anticoagulation. The purpose of this study was to elucidate the clinical characteristics of EHPVO. We conducted a retrospective analysis of the hospital database, evaluating the medical records of 15 patients (7 males, 8 females, mean age of onset 42.0 years, range 5-74 years). Thirteen of 15 EHPVO patients (86.7%) had intestinal varices. These included 10 esophageal (66.7%), 12 gastric (80.0%), and 6 ectopic varices (40.0%). Nine (60.0%) of 15 had a history of intestinal bleeding. Regarding comorbidities, 5 of 15 (33.3%) suffered from vascular diseases, including acute myocardial infarction, cerebral infarction, pulmonary embolism, Budd-Chiari syndrome, and mesenteric vein thrombosis. The former 3 vascular commodities manifested at less than 32 years of age. Four patients (26.7%) with JAK2V617F mutation were diagnosed as myeloproliferative neoplasm (MPN). 72.3% of EHPVO patients without MPN experienced thrombocytopenic state. No EHPVO patients with MPN experienced thrombo-leukocytopenia. The elevation of white blood cell and platelet counts, and decrease of protein S were seen in EHPVO with MPN, compared with EHPVO without MPN. EHPVO is frequently associated with underlying hypercoagulative factors, causing a dilemma between thrombotic complications and portal hypertensive bleeding. Most EHPVO patients experience an evident thrombocytopenic state due to severe hypersplenism; however, hypersplenic hematologic changes are eliminated in EHPVO with MPN. MPN should be suspected in EHPVO patients negative for thrombo-leukocytopenia.
肝外门静脉阻塞（EHPVO）是一种罕见疾病。大多数EHPVO患者通常因肠道出血和脾功能亢进性血小板减少症而被转诊至胃肠病学家处；然而，这些患者可能隐匿存在高凝性疾病，需要进行抗凝治疗。本研究的目的是阐明EHPVO的临床特征。我们对医院数据库进行了回顾性分析，评估了15例患者（7例男性，8例女性，平均发病年龄42.0岁，范围5 - 74岁）的病历。15例EHPVO患者中有13例（86.7%）存在肠道静脉曲张。其中包括10例食管静脉曲张（66.7%）、12例胃静脉曲张（80.0%）和6例异位静脉曲张（40.0%）。15例中有9例（60.0%）有肠道出血史。关于合并症，15例中有5例（33.3%）患有血管疾病，包括急性心肌梗死、脑梗死、肺栓塞、布加综合征和肠系膜静脉血栓形成。前3种血管合并症在32岁以下出现。4例（26.7%）携带JAK2V617F突变的患者被诊断为骨髓增殖性肿瘤（MPN）。无MPN的EHPVO患者中有72.3%出现血小板减少状态。有MPN的EHPVO患者未出现血栓性白细胞减少。与无MPN的EHPVO相比，有MPN的EHPVO患者出现白细胞和血小板计数升高以及蛋白S降低。EHPVO常与潜在的高凝因素相关，导致血栓并发症和门静脉高压出血之间的两难局面。大多数EHPVO患者由于严重脾功能亢进而出现明显的血小板减少状态；然而，有MPN的EHPVO患者脾功能亢进性血液学改变消失。对于无血栓性白细胞减少的EHPVO患者应怀疑存在MPN。
