Gilbert's Syndrome

 

Definition/Description[edit | edit source]

Gilbert’s syndrome is a benign liver condition that is characterized by elevated levels of bilirubin in the bloodCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Bilirubin is produced by the breakdown of red blood cells and is able to be removed from the body after the liver converts it from unconjugated bilirubin to conjugated bilirubinCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. In individuals with Gilbert’s syndrome, there is a buildup of unconjugated bilirubin in the liver as a result of a genetic mutation of the enzyme UDP-glucuronosyltransferase 1A isoform 1 (UGT1A1), which is important in bilirubin metabolismCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. The buildup of bilirubin is particularly evident after starvation, exertion, infection, consumption of alcohol, or dehydrationCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Bilirubin levels fluctuate and rarely increase to levels that cause jaundiceCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.

Prevalence[edit | edit source]

Estimated to affect 3 to 7% of individuals of all racesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
More common among males (2:1) compared to females (7:1)Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.

Gilbertjaundice.jpg

Characteristics/Clinical Presentation[edit | edit source]

Symptoms of Gilbert’s syndrome may include mild jaundice of the skin and eyes and is more commonly seen when the body is under stress Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. 30% of individuals will never have any signs or symptomsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. In the study published by Radoi et alCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title, 74% of the participants presented with recurrent asymptomatic jaundice, 66% nausea, 65% asthenia, 52% vague abdominal distention, and 8% were asymptomatic.

Associated Co-morbidities[edit | edit source]

There are no associated co-morbidities for individuals with Gilbert’s syndrome.

Medications[edit | edit source]

No medication is required for Gilbert’s syndrome. Some medications, such as the cancer therapy drug Irinotecan, may cause diarrhea for individuals with Gilbert’s syndrome. Other drugs such as Gemfibrozil, Atazanavir and indinavir may increase risks of jaundice and should also be avoided in patients with Gilbert’s SyndromeCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title

Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

Diagnosing Gilbert’s syndrome can be done by a blood test that detects elevated bilirubin levels. Most often the total level of bilirubin is less than 2 mg/dL, and the conjugated bilrubin level is normalCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. A complete blood count (CBC) and a liver function test may also be performed to rule out other diseases than can cause elevated bilirubin. The combination of normal blood and liver function tests and elevated bilirubin levels is an indicator of Gilbert's syndromeCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Genetic testing is not neededCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Gilbert’s syndrome is generally present at birth but goes unnoticed until the late teens or early twentiesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.

Metabolic Panel of Individual with Gilbert'sMetabolic Panel of an Individual with Gilbert's

Etiology/Causes[edit | edit source]

  • Inherited gene abnormality of the UGT1A1 gene which is expressed on the 2q37 chromosomeCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
  • Inherited autosomal recessive gene mutation, both parents must have the gene in order for it to be presentCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
  • Occurs in the absence of liver disease or hemolysisCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
  • Liver does not properly dispose of bilirubin due to the mutation of UGT1A1Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
  • Usually goes unnoticed until after pubertyCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
  • Elevated bilirubin and jaundice can come after dieting, starvation, consumption of alcohol, dehydration, increases in stress, intense physical exercise, infection or a lack of sleepCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title

Systemic Involvement[edit | edit source]

Individuals with Gilbert’s Syndrome were found to have reduced risk for endothelial dysfunction. Elevated bilirubin levels were found to reduce the prevalence of vascular complications and atherosclerosis in individuals with Gilbert’s Syndrome. This occurs by reducing the development of atherosclerosis by inhibiting the molecule responsible for intracellular adhesion. Dysfunction of the coronary microvasculature is also reduced due to the elevated levels of serum bilirubinCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.

Medical Management (Current Best Evidence)[edit | edit source]

Gilbert’s syndrome does not require any treatment. Mild jaundice may occur but does not require medical intervention. Jaundice caused from Gilbert’s Syndrome can be managed with rest, a healthy diet, and adequate fluidsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Gilbert’s syndrome is considered a mild condition and life expectancy is not affectedCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.

Physical Therapy Management (Current Best Evidence)[edit | edit source]

No physical therapy management is required.

Differential Diagnosis[edit | edit source]

The following are conditions that could present similiar to Gilbert's syndromeCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.

  • Acute and chronic liver disease
  • Crigler-Najaf syndrome
  • Medication-induced hyperbilirubinemia
  • Rhabdomyolysis
  • Biliary tract disease
  • Hemolysis
  • Thyrotoxicosis

Case Reports/ Case Studies[edit | edit source]

Pregnancy with Gilbert Syndrome - A Case Report

Title: Pregnancy with Gilbert Syndrome - A Case ReportCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
Authors: Mohan M, Sailaja LP, Narasimha PV
Journal: Journal of Clinical & Diagnostic Research
Date, Volume, Pages: 2014Jun;8(6):1-2

History
Patient was a female who presented to the emergency room with severe vomiting, myalgia, headache and jaundice. Patient was 32 weeks pregnant upon arrival to the ER. Jaundice had been present for 3 days. Patient had similar complaints at 16 and 24 weeks of gestation. She had no similar signs or symptoms prior to her pregnancy. Treatment included IV fluids and the issues resolved.

Examination
Pt was conscious, dehydrated, and had icterus without pallor
BP - 90/60 mmHg
Fetal HR - 148/mt
Urine ketone bodies 4+
RBS 54 mg/dL
Liver Function test normal with exception of serum bilirubin - 6mg/dL
Hepatitis test - negative
Liver - normal with no signs of obstruction

Treatment
Treated with IV fluids to correct dehydration
Jaundice resolved spontaneously
Serum bilirubin decreased to 2mg/dL within 48 hours
Symptoms improved and patient was discharged

Results
Patient was diagnosed with Gilbert’s Syndrome. The diagnosis was made due to constitutional symptoms present, hypoglycemia, and jaundice which was determined to be aggravated due to dehydration. The baby was born at 38 weeks following emergency Caesarian section. Both baby and mother were healthy at birth, five days and six weeks postnatal and showed no further signs of jaundice or elevated bilirubin levels.


Youtube Case Study - Gilbert's

Resources
[edit | edit source]

NIH/National Institute of Diabetes, Digestive and Kidney Diseases
Phone: (301) 496-3583
Website: http://www2.niddk.nih.gov/ 

American Liver Foundation
Phone: 1 (800) 465-4837
Website: http://www.liverfoundation.org

Recent Related Research (from Pubmed)[edit | edit source]

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References
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