Mesquita Raquel, Santos Inês, Monteiro Helena
Serviço de Medicina 2.1, Hospital dos Capuchos, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
Eur J Case Rep Intern Med. 2018 Feb 22;5(2):000796. doi: 10.12890/2017_000796. eCollection 2018.
Glanzmann thrombasthenia (GT) is a rare inherited disorder associated with abnormal platelet function. Non-surgical bleeding is common and can be life-threatening. A 70-year-old woman with GT presented with a 3 week history of melena and asthenia. She had hemoglobin of 3.8 g/dL. Both upper and lower endoscopies were inconclusive. Video capsule endoscopy showed multiple angioectasias and erosions in the distal ileum. Following several days of recurring intestinal hemorrhage, only treatment with recombinant activated factor VII proved to be effective, enabling patient stabilization with no further bleeding. Control and prevention of bleeding among these patients is imperative and remains challenging.
Glanzmann thrombasthenia is a rare inherited bleeding disorder of platelet function caused by a quantitative or qualitative defect of the platelet membrane glycoprotein (GP) IIb/IIIa (integrin αIIbβ3) complex.Bleeding is a concern in patients with GT due to its potential risk of severity and uncontrollability. It also greatly impacts on the quality of life of the patient.Recombinant FVIIa has been reported to be a safe and effective hemostatic agent when bleeding is not responsive to local management, antifibrinolytics or platelet transfusion.
Glanzmann血小板无力症（GT）是一种与血小板功能异常相关的罕见遗传性疾病。非手术性出血很常见，且可能危及生命。一名70岁的GT女性患者出现了3周的黑便和乏力病史。她的血红蛋白为3.8 g/dL。上消化道和下消化道内镜检查均无明确结果。视频胶囊内镜显示回肠末端有多处血管扩张和糜烂。经过数天反复的肠道出血后，仅重组活化因子VII治疗被证明有效，使患者病情稳定且未再出血。对这些患者进行出血的控制和预防至关重要，但仍然具有挑战性。
Glanzmann血小板无力症是一种罕见的遗传性血小板功能出血性疾病，由血小板膜糖蛋白（GP）IIb/IIIa（整合素αIIbβ3）复合物的数量或质量缺陷引起。由于GT患者出血有潜在的严重程度和不可控风险，出血是一个令人担忧的问题。它也极大地影响患者的生活质量。据报道，当出血对局部治疗、抗纤溶药物或血小板输注无反应时，重组FVIIa是一种安全有效的止血剂。
