Department of Gastroenterology and Hepatology, Graduate School of Medicine, Kyoto University, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.
Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.
Clin J Gastroenterol. 2021 Feb;14(1):293-296. doi: 10.1007/s12328-020-01274-6. Epub 2020 Nov 2.
Portal vein thrombosis is caused by various diseases, including liver cirrhosis, cancer, abdominal infection, and myeloproliferative disorders. Essential thrombocythemia is one of the myeloproliferative disorders in which the bone marrow produces excessive amount of platelets and can be accompanied by various thrombotic diseases; however, essential thrombocythemia with limited cutaneous systemic sclerosis has not been reported yet. We herein report a case of extensive portal vein thrombosis due to essential thrombocythemia with limited cutaneous systemic sclerosis. A 49-year-old woman was referred to our hospital due to liver dysfunction. Extended portal vein thrombosis, splenomegaly, and thrombocytosis were founded. The examination of Janus kinase 2 V617F mutation in the bone marrow was positive. These findings resulted in the diagnosis of portal vein thrombosis due to essential thrombocythemia. Furthermore, Raynaud's phenomenon, finger's sclerosis, and positive anti-centromere antibody led to limited cutaneous systemic sclerosis. To further analyze the causal relationship between essential thrombocythemia and limited cutaneous systemic sclerosis, platelet-derived growth factor was examined. High level of serum platelet-derived growth factor, possibly caused by high platelet count due to essential thrombocythemia, was observed. As platelet-derived growth factor has been reportedly associated with the occurrence of systemic sclerosis, the present case indicates the possible causal link between essential thrombocythemia and limited cutaneous systemic sclerosis through high platelet-derived growth factor.
门静脉血栓形成由多种疾病引起，包括肝硬化、癌症、腹部感染和骨髓增生性疾病。特发性血小板增多症是骨髓产生过多血小板的骨髓增生性疾病之一，可伴有各种血栓性疾病；然而，特发性血小板增多症伴有限性皮肤系统性硬化症尚未见报道。我们在此报告一例由特发性血小板增多症伴有限性皮肤系统性硬化症引起的广泛门静脉血栓形成。一名 49 岁女性因肝功能障碍被转至我院。发现门静脉广泛血栓形成、脾肿大和血小板增多。骨髓中 Janus 激酶 2 V617F 突变检测阳性。这些发现导致了特发性血小板增多症引起的门静脉血栓形成的诊断。此外，雷诺现象、手指硬化和抗着丝点抗体阳性导致有限性皮肤系统性硬化症。为了进一步分析特发性血小板增多症和有限性皮肤系统性硬化症之间的因果关系，检查了血小板衍生生长因子。由于特发性血小板增多症导致血小板计数升高，观察到血清血小板衍生生长因子水平升高。由于血小板衍生生长因子与系统性硬化症的发生有关，本病例通过高血小板衍生生长因子表明特发性血小板增多症和有限性皮肤系统性硬化症之间可能存在因果关系。
