Billett H H, Rizvi S, Sawitsky A
Division of Hematology, Department of Pathology, Long Island Jewish Medical Center Campus, Albert Einstein College of Medicine, New Hyde Park, NY 11040, USA.
Am J Hematol. 1996 Mar;51(3):234-6. doi: 10.1002/(SICI)1096-8652(199603)51:3<234::AID-AJH9>3.0.CO;2-Y.
Various coagulation defects have been associated with Gaucher's disease, including factor IX deficiency and acquired von Willebrand's disease (VWD). We performed repeated coagulation assays in 9 patients with Gaucher's disease over a period of 2 years. The prothrombin time (PT) and fibrinogen levels were normal in 8 of 9 patients, while the partial thromboplastin time (PTT) was abnormal in 5 of 9; all mixing PTT tests showed correction. Factor IX was normal repeatedly in the 7 of 7 patients tested. In contrast, factor XI was decreased in 3 of 9 patients assayed. Anticardiolipin (ACL) IgM was normal in all patients. ACL IgG was highly variable; levels were abnormal at least once in 6 of 8 patients, but were also normal at least once in 7 of 8 patients. Factor VIII was also quite variable: levels were decreased at least once in 4 of 9 patients, and normal at least once in 8 of 9 patients. Von Willebrand factor antigen (VWF Ag) studies were normal in 7 of 8 patients, but VWF activity was decreased at least once in 4 of 8 patients. In some patients, these problems could be overcome by specimen dilution. In ony 1 patient was VWF Ag decreased; this patient had a factor VIIIC level of 13% , and VWF activity of 18.7%. Coagulation assays performed before and after alglucerase administration failed to demonstrate any significant improvement in these assays, and neither was there a consistent improvement over the duration of therapy. We suggest that previously reported decreases in factor IX and VWF may be secondary to the interfering presence of increased cerebroside levels. Caution must be used in the interpretation of clotting assays in the patient with Gaucher's disease.
多种凝血缺陷与戈谢病相关，包括因子IX缺乏和获得性血管性血友病（VWD）。我们在2年时间里对9例戈谢病患者进行了多次凝血检测。9例患者中有8例的凝血酶原时间（PT）和纤维蛋白原水平正常，而9例中有5例的部分凝血活酶时间（PTT）异常；所有混合PTT试验结果均显示纠正。7例接受检测的患者中，因子IX多次检测结果均正常。相比之下，9例接受检测的患者中有3例因子XI水平降低。所有患者的抗心磷脂（ACL）IgM均正常。ACL IgG高度可变；8例患者中有6例至少有一次水平异常，但8例患者中有7例也至少有一次水平正常。因子VIII也变化很大：9例患者中有4例至少有一次水平降低，9例患者中有8例至少有一次水平正常。8例患者中有7例的血管性血友病因子抗原（VWF Ag）检测结果正常，但8例患者中有4例至少有一次VWF活性降低。在一些患者中，这些问题可通过标本稀释解决。只有1例患者的VWF Ag降低；该患者的因子VIIIC水平为13%，VWF活性为18.7%。在使用阿糖苷酶治疗前后进行的凝血检测未能显示这些检测有任何显著改善，且在治疗期间也没有持续改善。我们认为，先前报道的因子IX和VWF降低可能继发于脑苷脂水平升高的干扰作用。在解读戈谢病患者的凝血检测结果时必须谨慎。
