N Yusof, R Yousuf, N I Othman, S Abdul Aziz, L H Mohd Pauzy, D A Abdul Aziz
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On presentation, blood was oozing from the bite mark on her right wrist and there were multiple small bruises over her lower limbs. Full blood count, peripheral blood smear, coagulation profile, factor VIII assay, factor IX assay, von Willebrand Factor antigen and activity, bleeding time, and clot retraction test were normal. Platelet aggregation tests showed poor aggregation with ADP with a lag phase >60 seconds with arachidonic acid. There was poor ATP release reaction with ADP and arachidonic acid suggesting a storage defect. Subsequently, the EM of the platelets was performed and showed reduced dense granules indicating delta storage pool deficiency (δ-SPD). She was counselled about her diet and medication which seems to control her symptoms.</p><p><strong>Conclusions: </strong>This case report highlights rare δ-SPD confirmed by EM. Diagnosis of this disorder is crucial in managing the patient. Highly specialised tests including platelet aggregometry, EM and molecular analysis are helpful in diagnosing this rare SPD.</p>","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"121-127"},"PeriodicalIF":0.6000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Reduced dense granules in platelet by electron microscopy in a patient with abnormal platelet aggregation with ADP and arachidonic acid: A case report of delta storage pool disorder.\",\"authors\":\"N Yusof, R Yousuf, N I Othman, S Abdul Aziz, L H Mohd Pauzy, D A Abdul Aziz\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Delta storage pool disease (δ-SPD) is a platelet function disorder due to the decreased number and contents of dense granules causing bleeding symptoms. Diagnosis of δ-SPD is a complex procedure due to the variability of test results in platelet aggregometry and also it requires specialised tests. Electron microscopy (EM) is a promising tool to help in the diagnosis of this disorder. We report here a rare case of δ-SPD confirmed by EM.</p><p><strong>Case report: </strong>A 42-year-old lady presented with prolonged bleeding history from a leech bite for 3 days. She also has a history of bleeding of variable severity for more than 20 years. On presentation, blood was oozing from the bite mark on her right wrist and there were multiple small bruises over her lower limbs. Full blood count, peripheral blood smear, coagulation profile, factor VIII assay, factor IX assay, von Willebrand Factor antigen and activity, bleeding time, and clot retraction test were normal. Platelet aggregation tests showed poor aggregation with ADP with a lag phase >60 seconds with arachidonic acid. There was poor ATP release reaction with ADP and arachidonic acid suggesting a storage defect. Subsequently, the EM of the platelets was performed and showed reduced dense granules indicating delta storage pool deficiency (δ-SPD). She was counselled about her diet and medication which seems to control her symptoms.</p><p><strong>Conclusions: </strong>This case report highlights rare δ-SPD confirmed by EM. Diagnosis of this disorder is crucial in managing the patient. 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引用次数: 0
摘要
δ-SPD (δ- storage pool disease)是一种血小板功能障碍,由于致密颗粒数量和含量减少而引起出血症状。δ-SPD的诊断是一个复杂的过程,因为血小板聚集试验结果的可变性,也需要专门的试验。电子显微镜(EM)是一种很有前途的工具,可以帮助诊断这种疾病。我们在此报告一个罕见的δ-SPD病例,病例报告:一名42岁的女性,因水蛭咬伤出血3天。她也有不同程度的出血史超过20年。呈上时,她右手腕上的咬痕有血渗出下肢有多处小瘀伤。全血细胞计数、外周血涂片、凝血谱、凝血因子VIII、凝血因子IX、血管性血友病因子抗原及活性、出血时间、凝块缩回试验均正常。血小板聚集试验显示ADP的聚集性较差,与花生四烯酸的聚集期为60秒。ATP与ADP和花生四烯酸的释放反应较差,提示贮藏缺陷。随后,对血小板进行电镜检查,发现致密颗粒减少,表明δ-SPD缺乏。她接受了饮食和药物方面的建议,这似乎控制了她的症状。结论:本病例报告强调了EM证实的罕见δ-SPD。该疾病的诊断对患者的治疗至关重要。高度专业化的测试,包括血小板聚集、电子显微镜和分子分析,有助于诊断这种罕见的SPD。
Reduced dense granules in platelet by electron microscopy in a patient with abnormal platelet aggregation with ADP and arachidonic acid: A case report of delta storage pool disorder.
Introduction: Delta storage pool disease (δ-SPD) is a platelet function disorder due to the decreased number and contents of dense granules causing bleeding symptoms. Diagnosis of δ-SPD is a complex procedure due to the variability of test results in platelet aggregometry and also it requires specialised tests. Electron microscopy (EM) is a promising tool to help in the diagnosis of this disorder. We report here a rare case of δ-SPD confirmed by EM.
Case report: A 42-year-old lady presented with prolonged bleeding history from a leech bite for 3 days. She also has a history of bleeding of variable severity for more than 20 years. On presentation, blood was oozing from the bite mark on her right wrist and there were multiple small bruises over her lower limbs. Full blood count, peripheral blood smear, coagulation profile, factor VIII assay, factor IX assay, von Willebrand Factor antigen and activity, bleeding time, and clot retraction test were normal. Platelet aggregation tests showed poor aggregation with ADP with a lag phase >60 seconds with arachidonic acid. There was poor ATP release reaction with ADP and arachidonic acid suggesting a storage defect. Subsequently, the EM of the platelets was performed and showed reduced dense granules indicating delta storage pool deficiency (δ-SPD). She was counselled about her diet and medication which seems to control her symptoms.
Conclusions: This case report highlights rare δ-SPD confirmed by EM. Diagnosis of this disorder is crucial in managing the patient. Highly specialised tests including platelet aggregometry, EM and molecular analysis are helpful in diagnosing this rare SPD.
期刊介绍:
The Malaysian Journal of Pathology is the official journal of the College of Pathologists, Academy of Medicine Malaysia. The primary purpose of The Journal is to publish the results of study and research in Pathology, especially those that have particular relevance to human disease occurring in Malaysia and other countries in this region. The term PATHOLOGY will be interpreted in its broadest sense to include Chemical Pathology, Cytology, Experimental Pathology, Forensic Pathology, Haematology, Histopathology, Immunology, Medical Microbiology and Parasitology. The Journal aims to bring under one cover publications of regional interest embracing the various sub-specialities of Pathology. It is expected that the articles published would be of value not only to pathologists, but also to medical practitioners in search of a scientific basis for the problems encountered in their practice, and to those with an interest in diseases which occur in the tropics.