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Exacerbation of Hereditary Pyruvate Kinase Deficiency Following a Vegetable Juicing Fad Diet: A Case of Asymptomatic Jaundice Due to Hemolytic Anemia

Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Cureus
DOI: 10.7759/cureus.83590
Language: English
Subfield: Genetics
Field: Medicine
Open Access status: diamond
OpenAlex ID: W4410116361
FWCI:
Cites: 11
Cited by:
Related to: 10