Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
Department of Surgery, Al-Makassed Hospital, Jerusalem, Palestine.
J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231196697. doi: 10.1177/23247096231196697.
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.
格雷血小板综合征（GPS）是一种罕见的遗传性出血性疾病，其特征为巨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。在这里，我们报告了一例 15 岁男性患者，其病史为肝脾肿大和血小板减少 8 年，表现为突发全腹痛。尽管最初怀疑为肠胃炎，但诊断性影像学检查显示广泛的血腹。随后的基因检测证实了 GPS 的诊断，之前未被识别。本病例强调了在长期血小板减少症的青少年中应考虑遗传性血小板疾病的重要性，并强调了对有提示症状的患者进行全面评估的必要性。
