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Case Reports
. 2017;56(6):661-664.
doi: 10.2169/internalmedicine.56.7362. Epub 2017 Mar 17.

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia

Mitsuhiko Aiso  1 , Minami Yagi, Atsushi Tanaka, Kotaro Miura, Ryo Miura, Toshihiko Arizumi, Yoriyuki Takamori, Sayuri Nakahara, Yoshihiro Maruo, Hajime Takikawa
Affiliations
Case Reports

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia

Mitsuhiko Aiso et al. Intern Med. 2017.

Abstract

We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity. Both Gilbert syndrome and hereditary spherocytosis are hereditary diseases with a high frequency, and the hyperbilirubinemia may be exacerbated when these two diseases are concomitant.

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Figures

Figure 1.
Figure 1.
Peripheral blood smear (×1,000). Under normal conditions, red blood cells are flat in shape, and the centers are dented and look pale. In this patient, however, the centers of some red blood cells were deep and globular (arrow).
Figure 2.
Figure 2.
Abdominal CT. Splenomegaly (A) and calcified gallstones (B) were observed.
See this image and copyright information in PMC

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