Department of Hematology, Faculty of Medicine, Yüzüncü Yıl University, Van, Turkey
Department of Hematology, Faculty of Medicine, Fırat University, Elazığ, Turkey
Turk J Med Sci. 2020 Aug 26;50(5):1344-1349. doi: 10.3906/sag-1912-204.
BACKGROUND/AIM: Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare clonal hematopoietic stem cell disease characterized by chronic hemolytic anemia and thrombosis. We report data from a study of the occurrence of PNH among patients with idiopathic portal vein thrombosis (PVT).
Patients who were followed up with the diagnosis of idiopathic PVT were enrolled into this study. Those with laboratory and/or imaging evidence of any local or systemic factor that could lead to PVT were excluded. PNH clone was examined in all patients using established FLAER methodology.
A total of 112 patients (42 males and 70 females), none of them had a markedly PNH clone, but 4 patients (3.6%) with confirmed tests two times had small PNH clones (size between 3.02% and 4.62%). The median ages of PNH clone (-) and PNH clone (+) patients were 42 (range; 24–59) vs 39 (range; 36–42) years, respectively. The median hemoglobin concentration, platelet count and leukocyte count were lower in the PNH clone (+) group than the PNH clone (-) group. Anemia, thrombocytopenia, and leukopenia were detected in all PNH clone (+) patients. In addition, the PNH clone positivity size in monocytes was higher than erythrocytes in all of 4 patients.
PNH should be considered during differential diagnosis among patients with idiopathic PVT. Small PNH clones can be detected in PVT patients that we cannot clearly determine its relationship with PVT. We need furthermore studies to explore the potential role of this finding.
背景/目的：阵发性夜间血红蛋白尿症（PNH）是一种非常罕见的克隆性造血干细胞疾病，其特征为慢性溶血性贫血和血栓形成。我们报告了一项关于特发性门静脉血栓形成（PVT）患者中 PNH 发生情况的研究数据。
本研究纳入了经诊断为特发性 PVT 并接受随访的患者。排除了具有任何可能导致 PVT 的局部或全身因素的实验室和/或影像学证据的患者。所有患者均采用已建立的 FLAER 方法检查 PNH 克隆。
共纳入 112 例患者（42 名男性和 70 名女性），他们均无明显 PNH 克隆，但 4 例（3.6%）患者经两次确认检查均存在小 PNH 克隆（大小介于 3.02%至 4.62%之间）。PNH 克隆（-）和 PNH 克隆（+）患者的中位年龄分别为 42（范围：24-59）岁和 39（范围：36-42）岁。PNH 克隆（+）组的中位血红蛋白浓度、血小板计数和白细胞计数均低于 PNH 克隆（-）组。所有 PNH 克隆（+）患者均存在贫血、血小板减少和白细胞减少。此外，4 例患者的单核细胞中 PNH 克隆阳性比例均高于红细胞。
在特发性 PVT 患者的鉴别诊断中应考虑 PNH。在我们无法明确确定其与 PVT 关系的 PVT 患者中可检测到小的 PNH 克隆。我们需要进一步的研究来探讨这一发现的潜在作用。
