Hemoglobin SE Disease Presenting as a High-Altitude Massive Splenic Infarction Complicated by Hemorrhagic Conversion and Splenectomy.

Abstract

Hemoglobin SE (HbSE) disease is a hemoglobinopathy resulting from the combination of hemoglobin S (HbS) and hemoglobin E (HbE) genotypes. It may present as a vaso-occlusive crisis (VOC) in the setting of an acute stressor. Herein, we present a case of undiagnosed HbSE disease presenting as a massive splenic infarct in the setting of high-altitude exposure. A 55-year-old female of South Asian descent presented with acute left upper quadrant abdominal pain after hiking in the Swiss Alps four days previously. Laboratory testing revealed that she had hemolytic anemia, and computed tomography (CT) imaging showed a greater than 50% splenic infarction. After the initiation of anticoagulation, she experienced a hemorrhagic conversion of the initial splenic infarct resulting in acute hemodynamic decompensation. She initially underwent vascular intervention with arterial plugging, coiling, and embolization but ultimately required a splenectomy and partial colectomy upon developing a large splenic hematoma. Hemoglobin electrophoresis was consistent with hemoglobin SE disease. Hemoglobin variants, especially combined heterozygosity, are rare and have the potential to present as a vaso-occlusive crisis in the setting of acute chemical and physiological stresses. Only 43 cases of hemoglobin SE disease have been previously reported and one other occurrence in the setting of high altitude. Conservative management is recommended when a diagnosis of sickle cell trait (SCT) is definite, in comparison with cardioembolic phenomena, in which antiplatelet and anticoagulant therapy should be initiated. Hemoglobin SE disease is a rare heterozygous hemoglobinopathy resulting from the combination of hemoglobin variants geographically separated by thousands of miles. Currently, there are no strict guidelines supporting anticoagulation for the management of VOC in hemoglobinopathies. Splenic infarct in HbSE disease should be managed similarly to SCT/sickle cell disease (SCD) with fluids and analgesia, and anticoagulation should be limited to confirmed thromboembolic events and with the insight of an anticoagulant specialist.