Shimizu Tetsuya, Yoshioka Masato, Matsushita Akira, Ueda Junji, Kawashima Mampei, Ono Takashi, Kawano Yoichi, Yoshida Hiroshi
Department of Gastroenterological Surgery, Nippon Medical School.
J Nippon Med Sch. 2024 Dec 27;91(6):541-547. doi: 10.1272/jnms.JNMS.2024_91-601. Epub 2023 Aug 8.
Extrahepatic portal vein obstruction (EHPVO) is a rare disease-causing form of portal hypertension. Myeloproliferative neoplasm (MPN) including essential thrombocythemia (ET) is a reported risk factor for EHPVO due to underlying persistent thrombophilia. A Japanese woman in her 40s was referred to our hospital with a 1-month history of gastric variceal bleeding due to EHPVO. Laboratory investigation showed thrombocytosis despite portal hypertension. She had a mutation in clonal marker JAK2V617F with EHPVO, which prompted us to consult a hematologist. A bone marrow biopsy revealed megakaryocyte lineage proliferation, which confirmed a diagnosis of ET. Esophagogastroduodenoscopy revealed esophagogastric varices (LsF2CbRC2, Lg-cF1RC1), and abdominal computed tomography and angiography revealed splenomegaly and portal vein thrombosis with cavernous transformation, which suggested EHPVO. The patient had a history of ruptured esophagogastric varices and required prophylaxis against further variceal bleeding before antithrombotic therapy for EHPVO with ET. We performed laparoscopic Hassab's operation followed by endoscopic variceal ligation (EVL) and hematological cytoreduction therapy. Laparoscopic Hassab's operation and three bi-monthly EVL procedures improved the esophagogastric varix (LmF0RC0, Lg-f F0RC0) at 6 months after surgery. Cytoreduction therapy reduced platelet count to 60.1 × 10/uL, and the patient was very healthy at 7 months after surgery. Patients with EHPVO are traditionally referred to a gastroenterologist for abdominal pain, intestinal bleeding, or refractory ascites; however, hypercoagulative disease may be occult in such patients and require the attention of a hematologist. When treating patients with EHPVO, gastroenterologists should screen for hematological disease, including MPN.
肝外门静脉阻塞（EHPVO）是一种导致门静脉高压的罕见疾病形式。骨髓增殖性肿瘤（MPN），包括原发性血小板增多症（ET），因潜在的持续性血栓形成倾向而被报道为EHPVO的一个危险因素。一名40多岁的日本女性因EHPVO导致胃静脉曲张出血1个月而转诊至我院。实验室检查显示尽管存在门静脉高压，但仍有血小板增多。她在患有EHPVO的情况下克隆标记JAK2V617F发生了突变，这促使我们咨询血液科医生。骨髓活检显示巨核细胞系增殖，确诊为ET。食管胃十二指肠镜检查显示食管胃静脉曲张（LsF2CbRC2，Lg - cF1RC1），腹部计算机断层扫描和血管造影显示脾肿大以及门静脉血栓形成伴海绵样变，提示EHPVO。该患者有食管胃静脉曲张破裂病史，在对合并ET的EHPVO进行抗血栓治疗之前，需要预防进一步的静脉曲张出血。我们进行了腹腔镜下Hassab手术，随后进行内镜下静脉曲张结扎术（EVL）和血液学细胞减灭治疗。腹腔镜下Hassab手术和每两个月进行三次的EVL手术在术后6个月改善了食管胃静脉曲张（LmF0RC0，Lg - f F0RC0）。细胞减灭治疗使血小板计数降至60.1×10⁹/L，患者在术后7个月时非常健康。传统上，EHPVO患者因腹痛、肠道出血或难治性腹水而转诊至胃肠病学家处；然而，此类患者可能存在隐匿性高凝疾病，需要血液科医生关注。在治疗EHPVO患者时，胃肠病学家应筛查包括MPN在内的血液系统疾病。
