PDF(Pubmed)
Abstract：
Gray platelet syndrome (GPS) is a rare hereditary hemorrhagic disorder characterized by macrothrombocytopenia and the absence of alpha-granules in platelets. Clinically, mild-to-moderate bleeding is the main manifestation, often accompanied by thrombocytopenia, splenomegaly, and myelofibrosis. Here, we present a case of a 15-year-old male patient with a history of hepatosplenomegaly, and thrombocytopenia for 8 years, who presented with sudden generalized abdominal pain. Despite initial suspicion of gastroenteritis, diagnostic imaging revealed an extensive hemoperitoneum. Subsequent genetic testing confirmed the diagnosis of GPS, which had not been previously identified. This case highlights the importance of considering inherited platelet disorders should be considered in adolescents with long-standing thrombocytopenia, and emphasizes the need for thorough evaluation in patients with suggestive symptoms.
摘要：
灰色血小板综合征（GPS）是一种罕见的遗传性出血性疾病，其特征是血小板减少症和血小板中缺乏α-颗粒。临床上,轻度至中度出血是主要表现，常伴有血小板减少症，脾肿大,和骨髓纤维化。这里,我们介绍一例15岁男性患者，有肝脾肿大病史，和血小板减少症8年,出现突然的全身腹痛.尽管最初怀疑胃肠炎,诊断影像学显示广泛的腹膜积血。随后的基因检测证实了GPS的诊断，这是以前没有确定的。这个案例强调了考虑遗传性血小板疾病的重要性，应该考虑在患有长期血小板减少症的青少年中，并强调需要对有暗示性症状的患者进行全面评估。
