Dennis Jasmine L, Morrow Dustin, Cupp Julia A
Emergency Medicine, University of South Carolina School of Medicine at Greenville, Greenville, USA.
Internal Medicine, University of South Carolina School of Medicine at Greenville, Greenville, USA.
Cureus. 2020 Dec 13;12(12):e12063. doi: 10.7759/cureus.12063.
Beta-thalassemia is an autosomal recessive hemoglobinopathy that can result in microcytic hypochromic anemia, splenomegaly, hypercoagulability, and long-term sequelae. Beta-thalassemia intermedia, specifically, is diagnosed based on the moderate severity of illness, which does not carry the early symptomatic urgency of beta-thalassemia major, although patients of both often become chronically or intermittently transfusion-dependent. A presenting symptom may be splenomegaly, which is most efficiently detected with a combination of physical examination and point-of-care ultrasound (POCUS). We present the case of a 25-year-old male patient with no significant past medical history who presented to the emergency department with abdominal discomfort for one week. The history of present illness, review of systems, and physical exam were nonrevealing. An ultrasound was performed to rule out renal colic; however, he was incidentally found to have an enlarged and infarcted spleen. This unexpected discovery warranted a laboratory workup, which indicated beta-thalassemia intermedia. His diagnosis was confirmed with serum protein electrophoresis and he was thereafter followed by hematology. Beta-thalassemia intermedia can present suddenly in adulthood, despite a benign past medical history. Splenomegaly may be a presenting symptom and can be effectively detected with a physical exam plus POCUS. Failure to detect these subtleties can lead to potentially life-threatening conditions such as profound anemia, thromboembolic accidents, pulmonary hypertension, and pathological fractures. This case demonstrates the importance of utilizing POCUS in combination with a physical examination to attain a comprehensive perspective of anatomy, even in those patients fast-tracked in the emergency department.
β地中海贫血是一种常染色体隐性血红蛋白病，可导致小细胞低色素性贫血、脾肿大、高凝状态及长期后遗症。具体而言，中间型β地中海贫血是根据疾病的中度严重程度来诊断的，它不像重型β地中海贫血那样有早期症状的紧迫性，尽管这两种类型的患者常常会长期或间歇性地依赖输血。一个常见症状可能是脾肿大，体格检查和即时超声检查（POCUS）相结合能最有效地检测到脾肿大。我们报告一例25岁男性患者，既往无重大病史，因腹部不适一周就诊于急诊科。现病史、系统回顾及体格检查均无异常发现。为排除肾绞痛进行了超声检查；然而，偶然发现他的脾脏肿大且有梗死。这一意外发现促使进行实验室检查，结果提示为中间型β地中海贫血。血清蛋白电泳确诊了他的病情，此后他由血液科进行随访。中间型β地中海贫血可在成年期突然出现，尽管既往病史良好。脾肿大可能是一个常见症状，体格检查加POCUS能有效检测到。未能察觉这些细微之处可能导致潜在的危及生命的情况，如严重贫血、血栓栓塞事件、肺动脉高压和病理性骨折。该病例表明，即使在急诊科快速就诊的患者中，将POCUS与体格检查相结合以全面了解解剖结构也很重要。
