Health Dictionary
Reliable, easy-to-read patient information on common medical conditions β written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Gilbert's Syndrome
Introduction
For patient information click here
Synonyms and keywords: Familial benign unconjugated hyperbilirubinaemia; Constitutional liver dysfunction; Familial non-hemolytic non-obstructive jaundice; Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Unconjugated benign bilirubinemia; Morbus Meulengracht
Overview
Overview
Gilbert’s syndrome (pr. Zhil-bear), often shortened to the acronym GS, is the most common hereditary cause of increased bilirubin, and is found in up to 5% of the population. The main symptom is otherwise harmless jaundice which does not require treatment, caused by elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia).
The source of this hyperbilirubinemia is reduced activity of the enzyme glucuronyltransferase which conjugates bilirubin and some other lipophilic molecules. Conjugation renders the bilirubin water-soluble and suitable for excretion via the kidneys.
Historical Perspective
Gilbert’s syndrome was first described by French gastroenterologist Augustin Nicolas Gilbert and co-workers in 1901.[1][2] In German literature, it is commonly associated with Jens Einar Meulengracht.[3]
Pathophysiology
Gilbert’s syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).[4][5] The gene which encodes UGT1A1 normally has a promoter region TATA box containing the allele A(TA6)TAA. Gilbert’s syndrome is associated with homozygous A(TA7)TAA alleles.[6] The allele polymorphism is referred to as UGT1A1*28.
Epidemiology and Demographics
Gilbert’s syndrome affects up to 10% of people in some Caucasian populations. The condition is usually noncancerous (benign).
References
- β Template:WhoNamedIt
- β Gilbert A, Lereboullet P. La cholemie simple familiale. Sem Med 1901;21:241-3.
- β Template:WhoNamedIt
- β Raijmakers MT, Jansen PL, Steegers EA, Peters WH (2000). “Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene”. Journal of Hepatology. 33 (3): 348β351. PMID 11019988.
- β Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP; et al. (1995). “The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome”. New England Journal of Medicine. 333 (18): 1171β5. PMID 7565971.
- β Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996). “Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert’s syndrome”. Lancet. 347 (9001): 578β81. PMID 8596320.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Historical Perspective
Please help WikiDoc by adding more content here. It’s easy! Click here to learn about editing.
Overview
Gilbert’s syndrome was first described by French gastroenterologist Augustin Nicolas Gilbert and co-workers in 1901.[1][2] In German literature, it is commonly associated with Jens Einar Meulengracht.[3]
References
- β Template:WhoNamedIt
- β Gilbert A, Lereboullet P. La cholemie simple familiale. Sem Med 1901;21:241-3.
- β Template:WhoNamedIt
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Pathophysiology
Overview
Gilbert’s syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).[1][2] The gene which encodes UGT1A1 normally has a promoter region TATA box containing the allele A(TA6)TAA. Gilbert’s syndrome is associated with homozygous A(TA7)TAA alleles.[3] The allele polymorphism is referred to as UGT1A1*28.
References
- β Raijmakers MT, Jansen PL, Steegers EA, Peters WH (2000). “Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene”. Journal of Hepatology. 33 (3): 348β351. PMID 11019988.
- β Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP; et al. (1995). “The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome”. New England Journal of Medicine. 333 (18): 1171β5. PMID 7565971.
- β Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996). “Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert’s syndrome”. Lancet. 347 (9001): 578β81. PMID 8596320.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Differentiating Gilbert’s Syndrome from other Diseases
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
References
Epidemiology and Demographics
Please help WikiDoc by adding more content here. It’s easy! Click here to learn about editing.
Overview
Gilbert’s syndrome affects up to 10% of people in some Caucasian populations. The condition is usually noncancerous (benign).
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Natural History, Complications and Prognosis
Please help WikiDoc by adding more content here. It’s easy! Click here to learn about editing.
Complications
There are no known complications.
Prognosis
Jaundice may come and go throughout your life, especially during illnesses such as colds. However, it usually does not cause health problems.
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Diagnosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Treatment
Medical Therapy | Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]