Gilbert's syndrome

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Overview

Gilbert's syndrome Classification and external resources
Bilirubin
ICD-10	E80.4
ICD-9	277.4
OMIM	143500
DiseasesDB	5218
eMedicine	med/870
MeSH	D005878

WikiDoc Resources for Gilbert's syndrome
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Media
Powerpoint slides on Gilbert's syndrome Images of Gilbert's syndrome Photos of Gilbert's syndrome Podcasts & MP3s on Gilbert's syndrome Videos on Gilbert's syndrome
Evidence Based Medicine
Cochrane Collaboration on Gilbert's syndrome Bandolier on Gilbert's syndrome TRIP on Gilbert's syndrome
Clinical Trials
Ongoing Trials on Gilbert's syndrome at Clinical Trials.gov Trial results on Gilbert's syndrome Clinical Trials on Gilbert's syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Gilbert's syndrome NICE Guidance on Gilbert's syndrome NHS PRODIGY Guidance FDA on Gilbert's syndrome CDC on Gilbert's syndrome
Books
Books on Gilbert's syndrome
News
Gilbert's syndrome in the news Be alerted to news on Gilbert's syndrome News trends on Gilbert's syndrome
Commentary
Blogs on Gilbert's syndrome
Definitions
Definitions of Gilbert's syndrome
Patient Resources / Community
Patient resources on Gilbert's syndrome Discussion groups on Gilbert's syndrome Patient Handouts on Gilbert's syndrome Directions to Hospitals Treating Gilbert's syndrome Risk calculators and risk factors for Gilbert's syndrome
Healthcare Provider Resources
Symptoms of Gilbert's syndrome Causes & Risk Factors for Gilbert's syndrome Diagnostic studies for Gilbert's syndrome Treatment of Gilbert's syndrome
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International
Gilbert's syndrome en Espanol Gilbert's syndrome en Francais
Businness
Gilbert's syndrome in the Marketplace Patents on Gilbert's syndrome
Experimental / Informatics
List of terms related to Gilbert's syndrome

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.

Eponym

Gilbert's syndrome was first described by French gastroenterologist Augustin Nicolas Gilbert and co-workers in 1901.^[1][1]

In German literature, it is commonly associated with Jens Einar Meulengracht.^[1]

Pathogenesis

Gilbert's syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).^[1][1] 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.^[1] The allele polymorphism is referred to as UGT1A1*28.

Signs and symptoms

Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally has no serious consequence. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections.

Some patients report experiencing unpleasant physical symptoms during episodes of high bilirubin levels. They may report meal-related fatigue, tremors, nausea, and abdominal pain, with jaundice.^[1] Because patients may be unaware of their condition but conscious of apparent jaundice, they may present these symptoms at urgent-care facilities needlessly.

Gilbert's syndrome also reduces the liver's ability to detoxify certain drugs. For example, Gilbert's syndrome is associated with severe diarrhea and neutropenia in patients who are treated with irinotecan, which is metabolized by this enzyme.^[1]

While paracetamol (acetaminophen) is not metabolized by UGT1A1,^[1] it is metabolized by one of the other enzymes also deficient in some people with GS.^[1][1] A subset of people with GS may have an increased risk of paracetamol toxicity.^[1][1]

Diagnosis

While this syndrome is considered harmless, it is clinically important because it may be confused with much more dangerous liver conditions. However, these will show other indicators of liver dysfunction. Hemolysis can be excluded by a full blood count, haptoglobin, and lactate dehydrogenase levels. Liver biopsy is rarely necessary. The onset of GS is often in childhood or early adulthood.

Normal levels of total bilirubin (conjugated and unconjugated) are under 20 mmol/dL. Patients with GS show predominantly elevated unconjugated bilirubin, while conjugated is usually in normal ranges and form less than 20% of the total. Levels of bilirubin in GS patients should be between 20 mmol/dl and 80 mmol/dl (or, divided by 17.1 to express these numbers in mg/dL, between 1.17 and 4.68 mg/dL). GS patients will have a ratio of unconjugated/conjugated (indirect/direct) bilirubin that is commensurately higher than those without GS. Other liver enzymes are expected to be similar between patients with and without GS. Complete liver enzyme tests are ordered in order to assure the correct diagnosis.

The level of total bilirubin is often increased if the blood sample is taken while fasting.

More severe types of glucoronyl transferase disorders like GS are Crigler-Najjar syndrome (types I and II). These are much more severe and cause brain damage in infancy (type I) and teenage years (type II).

Synonyms

Alternative, less common names for this disorder are as follows:

• 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

See also

• Crigler-Najjar syndrome
• Dubin-Johnson syndrome
• Rotor syndrome

References

External links

• GilbertsSyndrome.com - collection of information on Gilbert's Syndrome, including symptom survey
• Gilbert's web - patient forum at gilbertsweb.co.uk
• Extract from "Total Wellness" by Dr. Joseph Pizzorno at gilbertsweb.co.uk
• Gilbert's Web Food Recommendations at gilbertsweb.co.uk
• Gilbert's Syndrome Fact Sheet at AllRefer Health
• Liver Detoxification Pathway at liverdoctor.co

v • d • e WikiDoc Research Resources for Gilbert's syndrome (Click show to right to view)
Articles on Gilbert's syndrome	Most recent articles on Gilbert's syndrome • Most cited articles on Gilbert's syndrome • Review articles on Gilbert's syndrome • Articles on Gilbert's syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Gilbert's syndrome	Powerpoint slides on Gilbert's syndrome • Images of Gilbert's syndrome • Photos of Gilbert's syndrome • Podcasts & MP3s on Gilbert's syndrome • Videos on Gilbert's syndrome
Evidence Based Medicine Regarding Gilbert's syndrome	Cochrane Collaboration on Gilbert's syndrome • Bandolier on Gilbert's syndrome • TRIP on Gilbert's syndrome
Cost Effectiveness of Gilbert's syndrome	Cost Effectiveness of Gilbert's syndrome
Clinical Trials Involving Gilbert's syndrome	Ongoing Trials on Gilbert's syndrome at Clinical Trials.gov • Trial results on Gilbert's syndrome • Clinical Trials on Gilbert's syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Gilbert's syndrome	US National Guidelines Clearinghouse on Gilbert's syndrome • NICE Guidance on Gilbert's syndrome • NHS PRODIGY Guidance • FDA on Gilbert's syndrome • CDC on Gilbert's syndrome
Textbook Information on Gilbert's syndrome	Books and Textbook Information on Gilbert's syndrome
Pharmacology Resources on Gilbert's syndrome	Dosing of Gilbert's syndrome • Drug interactions with Gilbert's syndrome • Side effects of Gilbert's syndrome • Allergic reactions to Gilbert's syndrome • Overdose information on Gilbert's syndrome • Carcinogenicity information on Gilbert's syndrome • Gilbert's syndrome in pregnancy • Pharmacokinetics of Gilbert's syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Gilbert's syndrome	Genetics of Gilbert's syndrome • Pharmacogenomics of Gilbert's syndrome • Proteomics of Gilbert's syndrome
Newstories on Gilbert's syndrome	Gilbert's syndrome in the news • Be alerted to news on Gilbert's syndrome • News trends on Gilbert's syndrome
Commentary on Gilbert's syndrome	Blogs on Gilbert's syndrome
Patient Resources on Gilbert's syndrome	Patient resources on Gilbert's syndrome • Discussion groups on Gilbert's syndrome • Patient Handouts on Gilbert's syndrome • Directions to Hospitals Treating Gilbert's syndrome • Risk calculators and risk factors for Gilbert's syndrome
Healthcare Provider Resources on Gilbert's syndrome	Symptoms of Gilbert's syndrome • Causes & Risk Factors for Gilbert's syndrome • Diagnostic studies for Gilbert's syndrome • Treatment of Gilbert's syndrome
Continuing Medical Education (CME) Programs on Gilbert's syndrome	CME Programs on Gilbert's syndrome
International Resources on Gilbert's syndrome	Gilbert's syndrome en Espanol • Gilbert's syndrome en Francais
Business Resources on Gilbert's syndrome	Gilbert's syndrome in the Marketplace • Patents on Gilbert's syndrome
Informatics Resources on Gilbert's syndrome	List of terms related to Gilbert's syndrome

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia

de:Morbus Meulengrachtfr:Syndrome de Gilbert

it:Sindrome di Gilbert he:תסמונת גילברט hu:Gilbert-szindróma nl:Syndroom van Gilbertsl:Gilbertov sindrom fi:Gilbertin oireyhtymä sv:Gilberts syndrom

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .