Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia

Mitsuhiko Aiso; Minami Yagi; Atsushi Tanaka; Kotaro Miura; Ryo Miura; Toshihiko Arizumi; Yoriyuki Takamori; Sayuri Nakahara; Yoshihiro Maruo; Hajime Takikawa

doi:10.2169/internalmedicine.56.7362

CASE REPORTS

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia

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

Author information

Mitsuhiko Aiso
Department of Medicine, Teikyo University School of Medicine, Japan
Minami Yagi
Department of Medicine, Teikyo University School of Medicine, Japan
Atsushi Tanaka
Department of Medicine, Teikyo University School of Medicine, Japan
Kotaro Miura
Department of Medicine, Teikyo University School of Medicine, Japan
Ryo Miura
Department of Medicine, Teikyo University School of Medicine, Japan
Toshihiko Arizumi
Department of Medicine, Teikyo University School of Medicine, Japan
Yoriyuki Takamori
Department of Medicine, Teikyo University School of Medicine, Japan
Sayuri Nakahara
Department of Pediatrics, Shiga University of Medical Science, Japan
Yoshihiro Maruo
Department of Pediatrics, Shiga University of Medical Science, Japan
Hajime Takikawa
Department of Medicine, Teikyo University School of Medicine, Japan

Keywords: Gilbert syndrome, UGT1A1, hereditary spherocytosis, unconjugated hyperbilirubinemia

JOURNAL OPEN ACCESS

2017 Volume 56 Issue 6 Pages 661-664

DOI https://doi.org/10.2169/internalmedicine.56.7362

Details

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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