A rare case of Yersinia pseudotuberculosis liver abscess and bacteremia in a heterozygous carrier of HFE1 H63D and MPEG1 mutations in Turkiye.

Yersinia pseudotuberculosis is a rare pathogenic organism in humans and is encountered mostly in patients with acquired or hereditary iron overload. This case report presents such a case with no known risk factors for iron overload, except heterozygous mutations in MPEG1 and HFE genes, while presenting the first patient with Y. pseudotuberculosis liver abscess in Turkiye. Here we present a 63-years-old male with known long-standing hypertension, type 2 diabetes, peripheral artery disease and chronic kidney disease presenting with right upper quadrant pain, nausea, vomiting and fever, whose imaging studies revealed multiple liver abscesses. While investigating the etiology, Yersinia pseudotuberculosis growth was observed in his abscess aspiration material and blood culture. Genetic analysis conducted after the detection of a ferritin level of 13725 µg/L, showed a heterozygous H63D mutation in HFE. Consequent whole-exon-sequencing reported an additional heterozygous p. Thr73Ala mutation in MPEG1. Even though, Y. pseudotuberculosis is detected mostly in patients with primary hemochromatosis, even heterozygous carriers of hemochromatosis may present clinically if concomitant comorbidities exist and may pose a challenge not only to clinicians but also to laboratory diagnosticians.