■遗传性球形红细胞增多症(HS),一种罕见的家族性血管外溶血性疾病,通常遵循具有可变表达的常染色体显性遗传模式。尽管它典型地表现为贫血,黄疸,脾肿大,在亚洲血统的人中很少报告HS,导致其诊断不足或延迟诊断。本病例报告的主要目的是强调渗透脆性试验在诊断HS中的关键作用。强调准确及时的识别对于有效的临床管理和改善患者预后的重要性。
■病人,没有已知的先前合并症,反复出现腹胀,早期饱腹感,容易疲劳坚持6年。体格检查显示黄疸,颌骨病变,左下软骨压痛,明显的脾肿大。红细胞的渗透脆性显著升高。患者在脾切除术前进行了优化,接受针对封装细菌的免疫。进行包装红细胞输血以达到最佳的血红蛋白水平。随访显示症状缓解,显著改善患者的生活质量。
■此案例强调了延迟HS诊断的挑战,患者在寻求适当的医疗护理之前经历了多年的症状。忽略渗透脆弱性测试的简单性和成本效益延长了诊断的旅程,强调对整体福祉的影响。
■HS仍未被诊断,尤其是在我们的地区。渗透脆性测试在资源有限的环境中成为一种经济的诊断工具,特别是当外周血涂片中没有球形细胞增多时。将其包含在诊断协议中可以加快准确的HS识别并增强患者预后。
UNASSIGNED: Hereditary spherocytosis (HS), a rare familial extravascular haemolytic disorder, typically follows an autosomal dominant inheritance pattern with variable expressivity. Despite its classical presentation of anaemia, jaundice, and splenomegaly, HS is infrequently reported among individuals of Asian descent, contributing to its under diagnosis or delayed diagnosis. The primary objective of this
case report is to underscore the pivotal role of the osmotic fragility test in diagnosing HS, emphasizing the importance of accurate and timely identification for effective clinical management and improved patient outcomes.
UNASSIGNED: The patient, without known prior co-morbidities, presented with recurrent abdominal distension, early satiety, and easy fatigability persisting for 6 years. Physical examination revealed icterus, gnathopathy, left hypochondrium tenderness, and palpable splenomegaly. The osmotic fragility of red cells was significantly elevated. The patient underwent optimization before splenectomy, receiving immunization against encapsulated bacteria. Packed red blood cell transfusions were administered to achieve optimal haemoglobin levels. Follow-up showed symptom relief, significantly improving the patient\'s quality of life.
UNASSIGNED: This
case underscores the challenges of delayed HS diagnosis, with the patient enduring symptoms for years before seeking appropriate medical attention. Overlooking the simplicity and cost-effectiveness of an osmotic fragility test prolonged the diagnostic journey, emphasizing the impact on overall well-being.
UNASSIGNED: HS remains underdiagnosed, especially in our regions. The osmotic fragility test emerges as an economical diagnostic tool in resource-limited settings, particularly when spherocytosis is absent in the peripheral blood smears. Its inclusion in diagnostic protocols can expedite accurate HS identification and enhance patient outcomes.