Thrombotic complications in patients with PMM2-CDG
Thrombotic complications in patients with PMM2-CDG
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DOI：
10.1016/j.ymgme.2013.02.006
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发表时间：
2013-05-01
影响因子：
3.8
通讯作者：
Morava, E.
中科院分区：
文献类型：
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作者：
Linssen, M.;Mohamed, M.;Morava, E.
在先天性糖基化障碍 (CDG) 中，许多调节凝血的蛋白质，包括因子 IX、因子 XI、抗凝血酶 III、蛋白 C 和蛋白 S 活性缺乏或降低。由于凝血和抗凝因子的不平衡，一些患者会发生急性血管事件，例如血栓形成。识别血栓事件风险增加的患者可以预防严重并发症甚至死亡。我们对诊断为最常见 CDG 形式的患者进行了系统评价； PMM2-CDG，1990 年至 2012 年间医学文献中报道。我们还评估了由 15 名患者组成的 PMM2-CDG 患者队列。根据全面临床描述的可用性，该研究总共纳入了 100 名患者。根据以下糖基化凝血和抗凝因子的变化对有和没有血栓事件的患者进行比较：抗凝血酶-III、蛋白C、蛋白S、因子IX和XI。我们还评估了整体止血、家族史和诱发事件。在 100 名 PMM2-CDG 患者组中，有 14 名患者发生了静脉或动脉血栓事件。几种抗凝因子的低活性与血栓事件相关。相对较高的因子 IX 和 XI 活性与血栓形成无关。延长 PT 和 aPTT 似乎并不能预防血栓形成。在患者中。外科手术经常与血栓事件相关。根据 PMM2-CDG 中血栓形成与手术的关联，我们建议避免 PMM2-CDG 患者进行择期外科手术。易于预防的危险因素（例如不动）应通过定期物理治疗进行治疗。我们建议每年对抗凝血酶 Ill 和蛋白 C 水平进行随访，并对家长进行 COG 早期血栓迹象的教育。 (C) 2013 Elsevier Inc. 保留所有权利。
Many proteins regulating coagulation, including factor IX, factor XI, Antithrombin-III, Protein C and Protein S are deficient or decreased in activity in congenital disorders of glycosylation (CDG). Because of the imbalance of coagulation and anticoagulation factors, some patients develop acute vascular events, such as thrombosis. Identifying patients with increased risk for thrombotic events could prevent serious complications and even mortality. We performed a systematic review on patients diagnosed with the most common CDG form; PMM2-CDG, reported between 1990 and 2012 in medical literature. We also evaluated our PMM2-CDG patient-cohort of 15 patients. In total, based on the availability of comprehensive clinical descriptions, 100 patients were included in the study. Patients with and without thrombotic events were compared based on the alterations of the following glycosylated coagulation and anticoagulation factors: Antithrombin-Ill, Protein C, Protein S, factors IX and XI. We also assessed the global hemostasis, family history and provoking events. In the group of 100 PMM2-CDG patients 14 had suffered a venous or arterial thrombotic event. Low activity of several anticoagulation factors correlated with thrombotic events. Relatively high factor IX and XI activities were not associated with thrombosis. Prolonged PT and aPTT did not seem to protect against thrombosis. in patients. Surgical procedures were frequently associated with thrombotic events.Based on the association of thrombosis and surgery in PMM2-CDG we advise to avoid elective surgical procedures in PMM2-CDG patients. Easily preventable risk factors like immobility should be treated with regular physiotherapy. We suggest a yearly follow-up for Antithrombin-Ill and Protein C levels and parent education for early thrombotic signs in COG. (C) 2013 Elsevier Inc. All rights reserved.