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Jai Ganesh

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Gilbert's Syndrome

Gilbert's Syndrome

Gist

Gilbert syndrome is caused by a modified gene someone inherits from their parents. This gene usually controls an enzyme that helps break down bilirubin in the liver. When someone has this ineffective gene, their blood contains too much bilirubin. This is because the body isn't producing enough of the enzyme.

Gilbert Syndrome diagnosis involves blood tests showing elevated unconjugated bilirubin with normal liver function tests (LFTs) and a complete blood count (CBC) to rule out other liver or blood conditions, often discovered incidentally in teens/young adults experiencing mild jaundice. Genetic testing for the UGT1A1 gene mutation can confirm it, but isn't always necessary, as the pattern of normal liver function with elevated bilirubin is usually sufficient for a confirmed diagnosis. 

Summary

Gilbert's syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority, resulting in higher levels in the blood. Many people never have symptoms. Occasionally jaundice (a yellowing of the skin or whites of the eyes) may occur.

Gilbert syndrome is due to a genetic variant in the UGT1A1 gene, which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of variant. Episodes of jaundice may be triggered by stress such as exercise, menstruation, or not eating. Diagnosis is based on elevated levels of unconjugated bilirubin in the blood without signs of liver problems or red blood cell breakdown.

Typically, no treatment is needed. Phenobarbital aids in the conjugation of bilirubin and can be prescribed if jaundice becomes significant. Gilbert syndrome is associated with decreased cardiovascular health risks but increased risks of some cancers and gallstones. Gilbert syndrome affects about 5% of people in the United States. Males are more often diagnosed than females. It is often not noticed until late childhood to early adulthood. The condition was first described in 1901 by Augustin Nicolas Gilbert.

Details

People with Gilbert's syndrome inherit a mutated gene that affects the liver’s ability to process bilirubin, a waste product that forms during the breakdown of old red blood cells. Jaundice (yellowish skin and eyes) occurs when too much bilirubin builds up in blood. Because this liver disease doesn’t cause serious problems, treatment isn’t necessary.

Overview:

What is Gilbert's syndrome?

Gilbert's syndrome is an inherited (genetic) liver disorder that affects the body’s ability to process bilirubin. Bilirubin is yellow liquid waste that occurs naturally as the body breaks down old red blood cells.

People with Gilbert's syndrome don’t produce enough liver enzymes to keep bilirubin at a normal level. As a result, excess bilirubin builds up in the body. Excess bilirubin is known as hyperbilirubinemia.

What is bilirubin?

Bilirubin is found in bile, a digestive liquid produced by the liver that helps the body absorb fat. Your liver is part of the digestive system. It filters toxins from blood, digests fats and stores glucose (a blood sugar) as glycogen to use for energy.

How common is Gilbert's syndrome?

An estimated 3% to 7% of Americans have Gilbert's syndrome. This type of liver disease is more common in males than in females. It affects all ages, races and ethnicities.

Who might have Gilbert's syndrome?

Gilbert's syndrome is genetic, meaning it’s passed down from parent to child through a change, or mutation, in a gene. People with Gilbert's syndrome inherit a mutated UGT1A1 gene.

Symptoms and Causes:

What causes Gilbert's syndrome?

A healthy UGT1A1 gene makes liver enzymes that break down bilirubin and remove it from the body. People with a mutated UGT1A1 gene only make about 30% of the enzymes they need. As a result, bilirubin doesn’t move into bile the way it should. The excess bilirubin builds up in blood.

What are the symptoms of Gilbert's syndrome?

Approximately 1 in 3 people with Gilbert's syndrome don’t have symptoms. They learn that they have the disease after getting blood tests to check for a different problem.

Among those with symptoms, the most common sign is jaundice, brought on by elevated levels of bilirubin in blood. Jaundice can turn your skin and whites of the eyes yellow, but it isn’t harmful.

Occasionally, people who have jaundice or Gilbert's syndrome also experience:

* Dark-colored urine or clay-colored stool.
* Difficulty concentrating.
* Dizziness.
* Gastrointestinal problems, such as abdominal pain, diarrhea and nausea.
* Fatigue.
* Flu-like symptoms, including fever and chills.
* Loss of appetite.

What worsens symptoms of Gilbert's syndrome?

These things can raise bilirubin levels in people with Gilbert's syndrome, leading to jaundice:

* Dehydration.
* Fasting or skipping meals.
* Illness or infections.
* Menstruation.
* Overexertion (too much physical activity).
* Stress.

Diagnosis and Tests:

How is Gilbert's syndrome diagnosed?

As a genetic condition, Gilbert's syndrome is present at birth. It often remains undiagnosed until blood tests detect high bilirubin levels. Diagnosis most commonly occurs when people are in their teens or early adulthood and getting blood tests for something else.

In addition to blood tests, you may get:

* Liver function tests to assess how well your liver is working and measure bilirubin levels.
* Genetic tests to check for the gene mutation that causes Gilbert's syndrome.

Management and Treatment:

What are the complications of Gilbert's syndrome?

Gilbert's syndrome is a mild condition. It doesn’t cause long-term complications or serious health problems.

How is Gilbert's syndrome managed or treated?

Jaundice can cause a yellowish appearance that may be unsettling. However, jaundice and Gilbert's syndrome don’t require treatment.

Additional Information:

Overview

Gilbert syndrome is a harmless liver condition in which the liver doesn't properly process bilirubin. Bilirubin is a substance produced by the breakdown of red blood cells.

Gilbert syndrome is a genetic condition passed down from your parents. You might not know you have Gilbert syndrome until it's discovered by accident, such as when a blood test shows raised bilirubin levels.

Gilbert syndrome needs no treatment.

The liver

The liver is your largest internal organ. About the size of a football, it's located mainly in the upper right portion of your abdomen — beneath the diaphragm and above your stomach. A small portion extends into the upper left quadrant.

Symptoms

The most common sign of Gilbert syndrome is an occasional yellowish tinge of the skin and the whites of the eyes, called jaundice. Jaundice is a result of slightly higher levels of bilirubin in the blood.

In people with Gilbert syndrome, bilirubin levels may increase due to:

* Illness, such as a cold or the flu.
* Fasting or eating a very low-calorie diet.
* Dehydration.
* Menstruation.
* Strenuous exercise.
* Stress.

When to see a doctor

Make an appointment with a healthcare professional if you have jaundice, which has many possible causes.

Causes

Gilbert syndrome is caused by a modified gene someone inherits from their parents. This gene usually controls an enzyme that helps break down bilirubin in the liver. When someone has this ineffective gene, their blood contains too much bilirubin. This is because the body isn't producing enough of the enzyme.

How the body processes bilirubin

Bilirubin is a yellowish pigment made when the body breaks down old red blood cells. Bilirubin travels through the bloodstream to the liver, where the enzyme breaks down the pigment and removes it from the bloodstream.

The bilirubin passes from the liver into the intestines with bile. It's then excreted in stool. A small amount of bilirubin remains in the blood.

How the modified gene is passed through families

The modified gene that causes Gilbert syndrome is common. Many people carry one copy of this gene. In most cases, two modified copies are needed to cause Gilbert syndrome.

Risk factors

Although it's present from birth, Gilbert syndrome usually isn't noticed until puberty or later. This is because bilirubin production increases during puberty. Risk factors for Gilbert syndrome include:

* Both parents carry the modified gene that causes the disorder.
* Being male.

Complications

The low level of the bilirubin-processing enzyme that causes Gilbert syndrome also may increase the side effects of certain medicines, since this enzyme plays a role in helping clear these medicines from the body.

These medicines include:

* Irinotecan (Camptosar), a cancer chemotherapy drug.
* Some protease inhibitors used to treat HIV.

If you have Gilbert syndrome, talk to a healthcare professional before taking new medicines. Also, having any other condition that affects the destruction of red blood cells may increase the risk of developing gallstones.

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