Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Abstract

Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To the best of our knowledge, there are currently no reports that focus on patients with systemic lupus erythematosus (SLE) coexisting with GS. The present study aimed to evaluate the clinical characteristics and genotype of UGT1A1 in a Chinese patient with SLE and GS. Complete medical records and laboratory data were reviewed for a patient with SLE referred to Ruijin Hospital (Shanghai, China) for treatment between March 2016 and January 2020. Genetic analysis of the UGT1A1 gene was performed by PCR amplification and Sanger sequencing. The serum total bilirubin and unconjugated bilirubin concentrations on admission were 96.2 and 86.8 µmol/l, respectively. The homozygous mutation c.1456T>G (p.Y486D) in exon 5 was detected in this patient. The patient had a good response to phenobarbital orally at a dose of 30 mg/day and a decrease in serum bilirubin was observed. Elevated unconjugated hyperbilirubinemia in SLE needs to be differentiated from other diseases, such as GS, which can be diagnosed by UGT1A1 genetic sequencing.

A Rare Case of Primary Sjogren’s Syndrome Coexisting With Gilbert Syndrome

“…The incidence of GS is as high as 5% to 10%, and CTDs are also common autoimmune diseases. However, only one study of systemic lupus erythematosus with GS has been retrieved [ 2 ], and no other case of CTD, including pSS, coexisting with GS has been reported. As the final product of hemoglobin metabolism, serum bilirubin, at low concentrations, functions as a strong endogenous antioxidant and plays an anti-inflammatory and immunosuppressive role, protecting against many diseases.…”

“…It was first reported by Gilbert and Lereboulet in 1901 [ 1 ]. Gilbert syndrome occurs in 5% to 10% of the global population, with a male-to-female ratio of 1.5 to 10:1 [ 2 , 3 ]. Under physiological conditions, unconjugated bilirubin combines with glucuronic acid to form conjugated bilirubin via uridine glucuronosyltransferase 1A1 (UGT1A1) in the liver [ 1 ].…”