Laxton Steven J
Department of Emergency Medicine, The University of Tennessee Health Science Center (UTHSC) Nashville - Ascension Saint Thomas Rutherford, Murfreesboro, USA.
Cureus. 2025 May 6;17(5):e83590. doi: 10.7759/cureus.83590. eCollection 2025 May.
Pyruvate kinase (PK) deficiency is a hereditary genetic disorder caused by an abnormal function of the enzyme pyruvate kinase. The enzyme function can range from near normal function to complete dysfunction of the enzyme PK. Just like the variability of enzyme function, this chronic illness can vary from mild anemia never needing intervention to severe anemia, multiorgan dysfunction, and death depending on the level of function of the enzyme PK. This is a case report of a middle-aged female patient who presented to the emergency department for persistent jaundice over the past two months. The patient was found to have unconjugated hyperbilirubinemia secondary to hemolytic anemia on laboratory examination. This is secondary to a major change in diet. The patient changed to a "fad" diet of "vegetable juicing", causing hemolytic anemia secondary to exacerbation of hereditary PK deficiency. This case highlights an abnormal presentation of a common complaint, jaundice, from the perspective of the emergency department in the setting of known hereditary enzyme deficiency and major diet change. No emergency interventions were required in the emergency department and the patient was able to be discharged home with gastroenterology follow-up and was instructed to return to prior heterogenous and balanced diet, which resulted in a complete resolution of symptoms. This case report presents a common chief complaint in an emergency department, caused by a rare disorder, exacerbated by an unlikely and previously unreported cause (vegetable juicing diet) based on current literature review.
丙酮酸激酶(PK)缺乏症是一种遗传性疾病,由丙酮酸激酶酶功能异常引起。该酶的功能范围可从接近正常功能到丙酮酸激酶完全功能障碍。就像酶功能的变异性一样,这种慢性病的严重程度也各不相同,从无需干预的轻度贫血到严重贫血、多器官功能障碍甚至死亡,这取决于丙酮酸激酶的功能水平。 这是一例中年女性患者的病例报告,该患者因过去两个月持续黄疸而到急诊科就诊。实验室检查发现患者因溶血性贫血继发非结合性高胆红素血症。这是由饮食的重大变化引起的。患者改为“蔬菜榨汁”的“时尚”饮食,导致遗传性PK缺乏症加重继发溶血性贫血。本病例从急诊科的角度,在已知遗传性酶缺乏和重大饮食变化的背景下,突出了常见症状黄疸的异常表现。 在急诊科无需进行紧急干预,患者在接受胃肠病学随访后得以出院,并被指示恢复之前多样化和均衡的饮食,症状完全缓解。根据目前的文献综述,本病例报告展示了急诊科一种常见的主诉,由一种罕见疾病引起,因一个不太可能且此前未报道的原因(蔬菜榨汁饮食)而加重。