A Severe Gilbert Syndrome

Introduction: The hyperbilirubinemias are a group of diseases characterized by alterations in the bilirubin metabolism pathway. Gilbert syndrome is a disease characterized by mild hyperbilirubinemia caused by mutations in the UGT1A1 gene. It is a benign condition. Alpha 1 Anti-Trypsin (AAT) deficiency is an inherited disease characterized by mutations in the serpin 1 gene. There are no described cases of hepatic disease by the combination of Gilbert syndrome with benign mutations of the serpin 1 gene.

Case study: A 70-year-old woman with obesity, former smoker, dyslipidemia, and pre-diabetes, presented in the emergency department after three episodes of hematemesis. At admission, she had mild anemia (10.3 g/dL). Analytical reassessment showed a decrease in hemoglobin (Hb 7.7 g/dL) and the upper digestive endoscopy showed esophageal varices. The hepatic biopsy showed cirrhosis. After a deep etiological study and the development of persistent mild cholestasis and hyperbilirubinemia, the only alterations found were a homozygous A(TA)₇TAA mutation on UDPglucuronosyltransferase (UGT1A1) gene and heterozygous Glu288Val (Pi*S/M) mutation on serpin 1 gene.

Conclusion: With this clinical case, we want to show that a combination of benign mutations may cause an addition of dysfunctions and promote the development of a hepatic severe disease.