Ezenwosu Osita U, Chukwu Barth F, Uwaezuoke Ndubuisi A, Ezenwosu Ifeyinwa L, Ikefuna Anthony N, Emodi Ifeoma J
Department of Paediatrics, College of Medicine, University of Nigeria, Enugu Campus, Nigeria.
Department of Community Medicine, University of Nigeria Teaching Hospital, Enugu, Nigeria.
Afr Health Sci. 2020 Jun;20(2):753-757. doi: 10.4314/ahs.v20i2.27.
Glanzmann's Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder due to defective platelet membrane glycoprotein GP IIb/IIIa (integrin αIIbβ3). The prevalence is estimated at 1:1,000,000 and it is commonly seen in areas where consanguinity is high.
The authors report a 12 year old Nigerian girl of Igbo ethnic group, born of non-consanguineous parents, who presented with prolonged heavy menstrual bleeding which started at menarche 3 months earlier, weakness and dizziness. She had a past history of recurrent episodes of prolonged epistaxis, gastrointestinal bleeding and gum bleeding during early childhood. On examination, she was severely pale with a haemic murmur and vaginal bleeding. The initial diagnosis was menorrhagia secondary to bleeding diathesis possibly von Willebrand's Disease. She was on supportive treatment with fresh whole blood, fresh frozen plasma and platelets until diagnosis of GT was made in the USA. Currently, she is on 3 monthly intramuscular Depo-provera with remarkable improvement.
To the best of our knowledge, this is the first documented report of GT in our environment where consanguinity is rarely practised. Our health facilities require adequate diagnostic and treatment facilities for rare diseases like GT.
Glanzmann血小板无力症（GT）是一种罕见的常染色体隐性出血性疾病，由血小板膜糖蛋白GP IIb/IIIa（整合素αIIbβ3）缺陷引起。其患病率估计为1:1,000,000，常见于近亲结婚率高的地区。
作者报告了一名12岁的伊博族尼日利亚女孩，其父母非近亲结婚。该女孩在3个月前初潮时出现月经长期大量出血，并伴有虚弱和头晕。她在幼儿期有反复出现长时间鼻出血、胃肠道出血和牙龈出血的病史。检查时，她面色极度苍白，有贫血杂音和阴道出血。初步诊断为继发于出血素质（可能为血管性血友病）的月经过多。在美国确诊为GT之前，她一直接受新鲜全血、新鲜冰冻血浆和血小板的支持治疗。目前，她每3个月接受一次肌肉注射醋酸甲羟孕酮，病情有显著改善。
据我们所知，这是在我们这个很少有近亲结婚的环境中关于GT的第一份有记录的报告。我们的卫生设施需要有足够的诊断和治疗罕见疾病（如GT）的设施。
