Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2020; 8(10): 2001-2008
Published online May 26, 2020. doi: 10.12998/wjcc.v8.i10.2001
Gilbert’s syndrome coexisting with hereditary spherocytosis might not be rare: Six case reports
Ling-Ling Kang, Ze-Lin Liu, Hou-De Zhang
Ling-Ling Kang, Hou-De Zhang, Department of Gastroenterology, Nanshan Hospital, Guangdong Medical University, Shenzhen 518052, Guangdong Province, China
Ze-Lin Liu, Department of Hematology, Nanshan Hospital, Guangdong Medical University, Shenzhen 518052, Guangdong Province, China
Hou-De Zhang, Guangdong Breath Test Engineering and Technology Research Center, Shenzhen 518052, Guangdong Province, China
Author contributions: Zhang HD conceived and designed the study; Kang LL and Liu ZL wrote the manuscript; Kang LL and Liu ZL contributed equally to this study; all authors read and approved the final manuscript.
Informed consent statement: Written informed consents for publication were obtained from patients.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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Corresponding author: Hou-De Zhang, MD, Professor, Department of Gastroenterology, Nanshan Hospital, Guangdong Medical University, 89 Taoyuan Road, Nanshan District, Shenzhen 518052, Guangdong Province, China. szkjk@126.com
Received: February 10, 2020
Peer-review started: February 10, 2020
First decision: March 5, 2020
Revised: March 26, 2020
Accepted: April 17, 2020
Article in press: April 17, 2020
Published online: May 26, 2020
Processing time: 104 Days and 19.8 Hours
Abstract
BACKGROUND

Both Gilbert's syndrome (GS) and hereditary spherocytosis (HS) are common genetic disorders. However, comorbidity of GS with HS has always been considered a rare phenomenon, and it can impede accurate diagnoses in the presence of isolated unconjugated hyperbilirubinemia.

CASE SUMMARY

In a study on Levitt’s carbon monoxide (CO) breath test for the differential diagnosis of isolated hyperbilirubinemia, we found six GS patients with HS in 6 mo. The patients, including five males and one female, aged 25-58 years, were from four families and generally in good health. Their chronic fluctuating jaundice and/or hyperbilirubinemia had been diagnosed as simple constitutional jaundice for 6-30 years. Liver function tests showed isolated unconjugated hyperbilirubinemia with serum total bilirubin ranging from 20.7-75.4 μmol/L. Blood hemoglobin was normal in five cases, and slightly decreased in one (11.5 g/dL). Overt hemolytic signs were absent, while erythrocyte lifespan determined by the newly developed Levitt’s CO breath test was significantly short (15-50 d), definitely demonstrating the presence of hemolysis. Given that their unconjugated hyperbilirubinemia compared inappropriately with hemolytic severity, as indicated by the hemoglobin level, further combined genetic tests for both UGT1A1 and hereditary erythrocyte deficiencies were conducted. These tests confirmed, at last, the coexistence of GS with HS.

CONCLUSION

Comorbidity of GS and HS might not be uncommon in isolated unconjugated hyperbilirubinemia. While CO breath test would sensitively detect the hemolysis, the discordance between the hyperbilirubinemia and hemoglobin level could strongly indicate the coexistence of GS and HS.

Keywords: Gilbert’s syndrome; Hereditary spherocytosis; Unconjugated hyperbilirubinemia; Erythrocyte lifespan; Levitt’s CO breath test; Case report

Core tip: The coexistence of Gilbert’s syndrome with a hemolytic disease can impede diagnosis. Gilbert’s syndrome-hemolysis disease comorbidity should be suspected in patients who present with isolated unconjugated hyperbilirubinemia when serum bilirubin levels are discordant with hemoglobin levels, especially if there are even subtle signs of possible hemolysis. Levitt’s CO breath test for erythrocyte lifespan determination and broadly available genetic tests can be used for rapid diagnosis of these conditions.