Meppiel Elodie, Crassard Isabelle, Latour Régis Peffault de, de Guibert Sophie, Terriou Louis, Chabriat Hugues, Socié Gérard, Bousser Marie-Germaine
From the AP-HP, Hôpital Lariboisière (EM, IC, HC, M-GB), Service de Neurologie; AP-HP, Hôpital Saint Louis (RPL, GS), Service d'Hématologie Greffe, Paris; Centre Hospitalier Pontchaillou (SG), Service d'Hématologie Clinique, Rennes; Hôpital Claude Huriez (LT), Service des Maladies du Sang, Lille; and INSERM 728 (GS), Université Paris 7 Denis Diderot, Paris, France.
Medicine (Baltimore). 2015 Jan;94(1):e362. doi: 10.1097/MD.0000000000000362.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by hemolytic anemia, marrow failure, and a high incidence of life-threatening venous thrombosis. Cerebral venous system is the second most frequent location of thrombosis after hepatic veins. However, data about PNH-related cerebral venous thrombosis (CVT) are very scarce because of the rarity of both the disorders.We report a French study about PNH patients with CVT. Patients were recruited retrospectively, from the Société Française d'Hématologie (SFH) registry of 465 patients with PNH; the Lariboisière registry of 399 patients with CVT; and a direct contact with 26 French Hematology Units. We review cases reported since 1938 in the English and French language literature. We then compared patients of our series with cases from the literature, with non-PNH-related CVT cases from Lariboisière registry, and with PNH patients without CVT from SFH registry.Fifteen patients were included between 1990 and 2012. Most patients were women (12/15) and half of them presented associated hormonal venous thrombosis risk factors. Three patients had concomitant hepatic vein thrombosis. CVT was the first manifestation of PNH in 4 patients. No major difference in CVT characteristics was found compared with non-PNH-related CVT cases, except for a younger age at diagnosis in PNH patients (P < 0.001). All patients were treated with anticoagulation therapy. One death occurred in acute stage. All surviving patients were independent 1 year after. Median survival time was 9 years. Recurrent thrombosis rate was 50% at 6 years, occurring in patients that did not have bone marrow transplantation or eculizumab therapy. Cases of death were mainly related to hepatic vein thrombosis.Prognosis of CVT was good in our series. However, these patients have a poor long-term prognosis due to PNH disease by itself. PNH treatment should be proposed as soon as possible to avoid recurrent thrombosis. Besides, inaugural CVT events encourage investigating PNH in case of cytopenia, hemolysis, abdominal veins thrombosis, or aplastic anemia history associated with the neurological complication.
阵发性睡眠性血红蛋白尿（PNH）是一种罕见的获得性造血干细胞疾病，其特征为溶血性贫血、骨髓衰竭以及危及生命的静脉血栓形成发生率较高。脑静脉系统是继肝静脉之后血栓形成的第二常见部位。然而，由于这两种疾病都很罕见，关于PNH相关脑静脉血栓形成（CVT）的数据非常稀少。我们报告一项关于患有CVT的PNH患者的法国研究。患者是通过回顾性招募的，来自法国血液学协会（SFH）登记的465例PNH患者；拉里博瓦西埃登记的399例CVT患者；以及与26个法国血液科直接联系。我们回顾了自1938年以来英文和法语文献中报道的病例。然后我们将本系列患者与文献中的病例、拉里博瓦西埃登记中与PNH无关的CVT病例以及SFH登记中没有CVT的PNH患者进行比较。1990年至2012年期间纳入了15例患者。大多数患者为女性（12/15），其中一半存在相关的激素性静脉血栓形成危险因素。3例患者同时存在肝静脉血栓形成。CVT是4例患者中PNH的首发表现。与非PNH相关的CVT病例相比，CVT特征未发现重大差异，只是PNH患者诊断时年龄较小（P<0.001）。所有患者均接受抗凝治疗。急性期有1例死亡。所有存活患者1年后均能独立生活。中位生存时间为9年。6年时复发血栓形成率为50%，发生在未进行骨髓移植或接受依库珠单抗治疗的患者中。死亡病例主要与肝静脉血栓形成有关。在我们的系列中，CVT的预后良好。然而，由于PNH疾病本身，这些患者的长期预后较差。应尽早提出PNH治疗以避免血栓形成复发。此外，初次发生CVT事件时，若存在血细胞减少、溶血、腹部静脉血栓形成或与神经并发症相关的再生障碍性贫血病史，应促使对PNH进行调查。
