Biedrzycki Olaf J, Sheaff Mike
Department of Histopathology, The Royal London Hospital, Whitechapel, London, United Kingdom.
Am J Forensic Med Pathol. 2010 Dec;31(4):385-7. doi: 10.1097/PAF.0b013e3181fc3568.
Sickle cell trait (SCT) is estimated to occur in 6% to 10% of Africans, and the United Kingdom (UK) prevalence rate has been estimated at 3.2%. Although sudden death in sickle cell disease is well known, its occurrence in SCT is rare and requires extremes of physiological stress. We present a case of a 29-year-old black woman who died suddenly during a period of religious fasting. Her medical history was unremarkable, and there was no family history of sickle cell disease. At postmortem, she was found to be dehydrated, and macroscopically, the main abnormal findings were congested lungs and a small spleen. Histological examination revealed extensive vascular congestion with red blood cell sickling in both lungs, the liver, and the spleen. Electrophoresis on a postmortem blood sample confirmed the clinical suspicion that the patient was a carrier of SCT. The case highlights a novel scenario of SCT associated sudden death. We discuss the potential pathophysiological mechanisms that may have led to the patient's demise. We also remind pathologists to consider this diagnosis as potentially contributing to the cause of death in apparently fit young people of ethnic origin during episodes of physiological stress.
镰状细胞性状(SCT)在6%至10%的非洲人中出现,据估计,英国的患病率为3.2%。虽然镰状细胞病患者猝死很常见,但在SCT患者中却很少见,且需要极端的生理应激。我们报告一例29岁黑人女性在宗教禁食期间突然死亡的病例。她的病史无异常,且无镰状细胞病家族史。尸检时,发现她脱水,大体上主要异常表现为肺部充血和脾脏较小。组织学检查显示双肺、肝脏和脾脏均有广泛的血管充血伴红细胞镰变。对尸检血样进行的电泳证实了临床怀疑,即该患者为SCT携带者。该病例突出了SCT相关猝死的一种新情况。我们讨论了可能导致患者死亡的潜在病理生理机制。我们还提醒病理学家,在生理应激期间,对于明显健康的年轻族裔人群,要考虑这一诊断可能是导致死亡的原因之一。