以月经过多为表现的11岁年轻女孩的Glanzmann血栓减少症:何时怀疑和如何处理这种罕见疾病

Claudia Cammarata, Manuela G Ingrascì, R. Tomasello, Marta Mattana, S. Siragusa, M. Napolitano
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引用次数: 0

摘要

我们报告了一名健康的11岁女孩,她没有任何出血史或家族史,自4个月前月经初潮以来出现月经异常失血。妇科医生对患者进行了评估,除了诊断为无排卵周期外,还提供了正常体检和盆腔超声检查的证据。血液检查,包括全血细胞计数和一线凝血测定均正常。她对儿科医生建议的口服氨甲环酸治疗没有反应。患者随后被送往一家参考医院进行调查,并要求进行血液学咨询。二线凝血试验正常,但血小板聚集试验提示Glanzmann血栓衰弱,流式细胞术证实了这一点。提出了治疗建议,通过额外的雌孕激素治疗,月经失血过多得到了很好的控制,血红蛋白水平保持稳定。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Glanzmann’s Thrombasthenia in a Young 11-Year-Old Girl Presenting with Menorrhagia: When to Suspect and How to Manage a Rare Disease
We report on an otherwise healthy 11-year-old girl without any past or family history of bleeding, presenting with abnormal menstrual blood losses since menarche which started 4 months back. The patient was evaluated by a gynecologist with evidence of a normal physical examination and pelvic ultrasounds except for the diagnosis of anovulatory cycles. Blood tests including complete blood cells count and first line coagulation assays were normal. She did not respond to oral tranexamic acid treatment suggested by a pediatrician. The patient was later admitted in a reference hospital for investigations and a hematology consult was requested. A second line coagulation assay was normal but platelets aggregation tests were suggestive of Glanzmann’s thrombasthenia which was confirmed by flow cytometry. Treatment recommendations were made and with the additional estro-progestin treatment administration, a good control of excessive menstrual blood losses was achieved and haemoglobin levels remained stable.
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