Year 2016 / Volume 108 / Number 4
Case Report
Unusual presentation of Gilbert disease with high levels of unconjugated bilirubin. Report of two cases

228-230

DOI: 10.17235/reed.2015.3719/2015

Eduardo Flores-Villalba, Carlos Rodriguez-Montalvo, Francisco Bosques-Padilla, Gabriela Arredondo-Saldaña, Tania Zertuche-Maldonado, Landy Torre-Flores,

Abstract
Gilbert’s syndrome is a benign condition characterized by asymptomatic sporadic episodes of jaundice, due to a mild unconjugated hyperbilirubinemia caused by a deficiency in bilirubin glucoronidation. Under certain physiologic or pathologic events bilirubin level rises but according to literature it does not reach out more than 3 mg/dl. We report 2 cases of Gilbert’s syndrome, genetically tested, which presented with bilirubin levels above 6mg/dl without any trigger or coexisting condition. In conclusion, bilirubin levels higher than 6 mg/dL in Gilbert syndrome are rare, hemolytic and other metabolism diseases must be ruled out, and genetic testing may be necessary in some cases.
Share Button
New comment
Comments

20/02/2020 17:21:18
Buenas tardes:
Me preguntaba si existe una versión en español del artículo y, de ser así, dónde (o si) estaría disponible.
Estoy realizando un trabajo de documentación y me sería de gran ayuda.

Muchas gracias
Saludos


References
1. Bosma P, Chowdhury JR, Jansen PH. Genetic inheritance of Gilbert's syndrome. Lancet 1995;346:314-5.
2. Borlak J, Thum T, Landt O, et al. Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. Hepatology 2000;32:792-5.
3. Monaghan G, Ryan M, Seddon R, et al. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996;347:578-81.
4. Biondi ML, Turri O, Dilillo D, et al. Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in the Italian population. Clinical chemistry 1999;45:897-8.
5. Lampe JW, Bigler J, Horner NK, et al. UDP-glucuronosyltransferase (UGT1A1*28 and UGT1A6*2) polymorphisms in Caucasians and Asians: relationships to serum bilirubin concentrations. Pharmacogenetics 1999;9:341-9.
6. Raijmakers MT, Jansen PL, Steegers EA, et al. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 2000;33:348-51.
7. Felsher BF, Rickard D, Redeker AG. The reciprocal relation between caloric intake and the degree of hyperbilirubinemia in Gilbert's syndrome. N Engl J Med 1970;283:170-2.
8. Barrett PV. The effect of diet and fasting on the serum bilirubin concentration in the rat. Gastroenterology 1971;60:572-6.
9. Fretzayas A, Moustaki M, Liapi O, et al. Gilbert syndrome. European journal of pediatrics 2012;171:11-5.
10. Koiwai O, Nishizawa M, Hasada K, et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Human molecular genetics 1995;4:1183-6.
11. Black M, Billing BH. Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome. N Engl J Med 1969;280:1266-71.
12. Auclair C, Feldmann G, Hakim J, et al. Bilirubin and paranitrophenol glucuronyl transferase activities and ultrastructural aspect of the liver in patients with chronic hemolytic anemias. Biomedicine / [publiee pour l'AAICIG] 1976;25:61-5.
13. Powell LW, Hemingway E, Billing BH, et al. Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. N Engl J Med 1967;277:1108-12.
14. Ellis E, Wagner M, Lammert F, et al. Successful treatment of severe unconjugated hyperbilirubinemia via induction of UGT1A1 by rifampicin. J Hepatol 2006;44:243-5.
15. Muraca M, Fevery J. Influence of sex and sex steroids on bilirubin uridine diphosphate-glucuronosyltransferase activity of rat liver. Gastroenterology 1984;87:308-13.
16. Erlinger S, Arias IM, Dhumeaux D. Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences. Gastroenterology 2014;146:1625-38.
17. Lankisch TO, Behrens G, Ehmer U, et al. Gilbert's syndrome and hyperbilirubinemia in protease inhibitor therapy--an extended haplotype of genetic variants increases risk in indinavir treatment. J Hepatol 2009;50:1010-8.
18. Burchell B, Soars M, Monaghan G, et al. Drug-mediated toxicity caused by genetic deficiency of UDP-glucuronosyltransferases. Toxicology letters 2000;112-113:333-40.
Related articles

Letter

Icteric syndrome secondary to polycystic liver disease

DOI: 10.17235/reed.2023.9590/2023

Digestive Diseases Image

“White bile” as a result of a malignant bile obstruction

DOI: 10.17235/reed.2021.8098/2021

Letter

Severe hepatotoxicity secondary to nintedanib

DOI: 10.17235/reed.2020.7585/2020

Digestive Diseases Image

Duodenal diverticulum causing obstructive jaundice – Lemmel’s syndrome

DOI: 10.17235/reed.2020.7516/2020

Digestive Diseases Image

Mirizzi syndrome: when the gallbladder meets bile ducts

DOI: 10.17235/reed.2019.5846/2018

Letter

Obstructive jaundice of a parasitic etiology

DOI: 10.17235/reed.2018.5827/2018

Digestive Diseases Image

Painless jaundice as an initial presentation of lung adenocarcinoma

DOI: 10.17235/reed.2018.5587/2018

Letter

Obstructive jaundice secondary to a hepatic hydatid cyst

DOI: 10.17235/reed.2018.5574/2018

Letter to the Editor

Complicated peribiliary cysts in patient without any prior liver disease

DOI: 10.17235/reed.2017.5350/2017

Citation tools
Flores-Villalba E, Rodriguez-Montalvo C, Bosques-Padilla F, Arredondo-Saldaña G, Zertuche-Maldonado T, Torre-Flores L, et all. Unusual presentation of Gilbert disease with high levels of unconjugated bilirubin. Report of two cases. 3719/2015


Download to a citation manager

Download the citation for this article by clicking on one of the following citation managers:

Metrics
This article has received 719 visits.
This article has been downloaded 192 times.

Statistics from Dimensions


Statistics from Plum Analytics

Publication history

Received: 04/02/2015

Accepted: 11/04/2015

Online First: 15/07/2015

Published: 01/04/2016

Article revision time: 65 days

Article Online First time: 161 days

Article editing time: 422 days


Share
This article hasn't been rated yet.
Reader rating:
Valora este artículo:




Asociación Española de Ecografía Digestiva Sociedad Española de Endoscopia Digestiva Sociedad Española de Patología Digestiva
The Spanish Journal of Gastroenterology is the official organ of the Sociedad Española de Patología Digestiva, the Sociedad Española de Endoscopia Digestiva and the Asociación Española de Ecografía Digestiva
Cookie policy Privacy Policy Legal Notice © Copyright 2023 y Creative Commons. The Spanish Journal of Gastroenterology