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镰状细胞特征:腹痛和肺栓塞的一个原因。

Sickle cell trait: a cause of abdominal pain and pulmonary embolism.

机构信息

Hospital Privado universitario de Córdoba.

出版信息

Rev Fac Cien Med Univ Nac Cordoba. 2020 Dec 1;77(4):360-362. doi: 10.31053/1853.0605.v77.n4.25077.

Abstract

INTRODUCTION

Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. However, under certain circumstances, some clinical characteristics of the disease may develop.

METHODS

We discussed the case of a 39-Year old man who presented with persistent abdominal pain of unknown origin after traveling to a high-altitude place. He underwent laparotomy without a definite diagnosis. After that, the patient developed signs of splenic infarction and pulmonary thromboembolism that were confirmed by computed tomography.

RESULTS

A sickling test was positive, and a hemoglobin electrophoresis revealed an abnormal fraction at the HbS level. In this context a diagnosis of SCT was made. Additional, tests revealed a strongly positive lupus anticoagulant.

CONCLUSION

SCT presentation as abdominal pain and thromboembolic disease in adult patients after exposure to high altitudes is a rarely suspected diagnosis.

摘要

简介

镰状细胞特质(SCT)是阿根廷人群中一种罕见且诊断不足的疾病。在这种情况下,个体的两个β-珠蛋白基因之一携带 HbS 基因突变。一般来说,SCT 不会出现典型的镰状细胞贫血表现。然而,在某些情况下,可能会出现该疾病的某些临床特征。

方法

我们讨论了一位 39 岁男性的病例,他在前往高海拔地区后出现不明原因的持续性腹痛。他接受了剖腹手术,但没有明确诊断。之后,患者出现脾梗死和肺血栓栓塞的迹象,这些迹象通过计算机断层扫描得到了证实。

结果

镰状细胞试验呈阳性,血红蛋白电泳显示 HbS 水平出现异常片段。在此背景下,诊断为 SCT。进一步的检查显示出强烈阳性的狼疮抗凝剂。

结论

镰状细胞特质在成年患者中表现为腹痛和血栓栓塞性疾病,在接触高海拔后是一种很少被怀疑的诊断。

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