Beirat Amir F, Menakuru Sasmith R, Kalra Maitri
Department of Internal Medicine, Indiana University School of Medicine, Muncie, IN 47303, USA.
Department of Hematology/Oncology, Indiana University School of Medicine, Muncie, IN 47303, USA.
Hematol Rep. 2023 Jun 29;15(3):405-410. doi: 10.3390/hematolrep15030041.
Hereditary platelet delta (δ)-storage pool deficiency is a rare condition in which there are fewer dense granules in platelets disrupting primary hemostasis. It can cause a mild-moderate bleeding tendency with normal coagulation studies; hence, it is an underdiagnosed diagnostic challenge. The authors present three patients with hereditary platelet delta (δ)-storage pool deficiency who had heavy menstrual bleeding, excessive bleeding following surgery, mucocutaneous bleeding, and a bleeding score greater than or equal to 6. These cases reveal the susceptibility of underdiagnosing platelet disorders and the significance of utilizing a bleeding assessment tool to help guide further workup with transmission electron microscopy to visualize the fewer dense granules in platelets. Although bleeding is typically moderate, it can be severe in certain scenarios, like after mucosal surgeries, and can lead to death, highlighting the importance of the condition's recognition and prophylactic treatment.
遗传性血小板δ储存池缺乏症是一种罕见病症，血小板中致密颗粒减少，从而干扰初级止血功能。它可导致轻度至中度出血倾向，凝血检查结果正常；因此，这是一个诊断不足的诊断难题。作者介绍了三名患有遗传性血小板δ储存池缺乏症的患者，他们有月经过多、手术后出血过多、黏膜皮肤出血，且出血评分大于或等于6。这些病例揭示了血小板疾病诊断不足的易感性，以及使用出血评估工具来帮助指导进一步检查的重要性，通过透射电子显微镜观察血小板中较少的致密颗粒。虽然出血通常为中度，但在某些情况下可能很严重，如黏膜手术后，甚至可能导致死亡，这凸显了识别该病症及预防性治疗的重要性。
