Gilbert's Syndrome - Causes, Symptoms, Diagnosis, Treatment and Prevention

Introduction:

Gilbert’s syndrome is a condition characterized by high bilirubin levels in the blood (hyperbilirubinemia). Gilbert's syndrome is a common harmless liver condition in which the liver does not correctly process a substance called bilirubin. Bilirubin is the byproduct of the breakdown of red blood cells. This substance is removed from the body after undergoing a chemical reaction in the liver, which converts the unconjugated bilirubin (toxic form) to conjugated bilirubin (non-toxic form). People with Gilbert’s syndrome have elevated levels of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).

Gilbert's syndrome is also called constitutional hepatic dysfunction, familial nonhemolytic jaundice, Meulengracht disease, hyperbilirubinemia I, or unconjugated benign bilirubinemia.

Gilbert's syndrome is generally a benign condition characterized by recurrent episodes of jaundice. Patients are usually asymptomatic except for the symptoms of jaundice. Gilbert’s syndrome affects about three to seven percent of people in the American population. It affects all ages, races, and ethnicities. Gilbert's syndrome is more commonly found in men than women. It is a harmless condition, and no treatment is usually necessary.

How Does the Body Normally Process Bilirubin?

Bilirubin is a yellowish pigment made when the body breaks down old red blood cells. Bilirubin travels to the liver through the bloodstream, where the liver enzyme (glucuronyltransferase) breaks down the bilirubin and removes it from the bloodstream. The bilirubin then passes from the liver into the intestine with bile. It is then excreted in the stool. A small amount of bilirubin remains in the blood.

What Are the Causes of Gilbert's Syndrome?

Gilbert's syndrome is a common disorder that is passed through families. It is inherited as an autosomal dominant trait. The liver enzyme (glucuronyltransferase) helps in the breakdown of bilirubin and UGT1A1 is the gene that carries instructions for this liver enzyme. Gilbert's syndrome happens when this UGT1A1 gene changes or mutates. Many people have one copy of this gene. In most cases, two abnormal gene copies are needed to cause Gilbert's syndrome.

What Are the Symptoms of Gilbert's Syndrome?

Most patients with Gilbert’s syndrome are usually asymptomatic except for recurrent episodes of jaundice. They typically appear first during adolescence. The most common sign of Gilbert's syndrome is the yellowish tinge of skin and the white of the eyes due to elevated bilirubin levels in the blood.

In Gilbert's syndrome, bilirubin levels increase, and jaundice becomes apparent because of:

• Illness such as cold or flu.

• Fasting or eating a very low-calorie diet.

• Dehydration.

• Stress.

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• Drink alcohol.

• Heavy exercise.

• Lack of sleep.

• Having surgery.

• Having periods.

• Cold exposure.

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

• Dark-colored urine or clay-colored stool.

• Difficulty in concentration.

• Dizziness.

• Abdominal pain, diarrhea, and nausea.

• Fatigue.

• Flu symptoms, including fever and chills.

• Loss of appetite.

How Is Gilbert's Syndrome Diagnosed?

As a genetic condition, Gilbert's syndrome is present at birth. Persons with Gilbert’s syndrome are diagnosed in their late teens or early twenties. The disease is diagnosed when you have a blood test for another reason, and the doctor may find high levels of bilirubin which might indicate this syndrome.

The following tests are done to confirm the diagnosis:

• The combination of normal blood and liver function tests and elevated bilirubin levels indicates Gilbert's syndrome.

• A liver ultrasound to rule out other problems.

• Gene tests to see UGT1A1 gene mutation.

• A liver biopsy (rare).

• Diagnosis confirmation is done by giving Phenobarbital, which lowers bilirubin levels, and intravenous Nicotinic acid, which will raise bilirubin levels.

What Is the Differential Diagnosis?

Other causes of elevated bilirubin levels include:

• Acute inflammation of the liver.

• Cholangitis is the inflammation or infection of the bile duct.

• Obstruction of the bile duct due to gallstones.

• Bilirubin levels are increased when red blood cells are destroyed prematurely (hemolytic anemia).

• Crigler-Najjar Syndrome: It is an inherited condition that impairs the specific enzyme responsible for processing bilirubin, resulting in increasing bilirubin levels.

• Dubin-Johnson Syndrome: This disease is a form of chronic jaundice that prevents the excretion of conjugated bilirubin from liver cells.

What Are the Treatment Options for Gilbert's Syndrome?

Most people with Gilbert's syndrome do not require treatment. Jaundice does not cause any long-term complications. In patients with co-existing disorders and increased bilirubin levels, Phenobarbital can be used to decrease the bilirubin level. The mild increase in unconjugated bilirubin due to Gilbert’s syndrome is closely related to reducing the prevalence of chronic diseases, especially cardiovascular disease and type 2 diabetes. Research has found a significantly decreased risk of coronary artery disease in individuals with Gilbert's syndrome. Platelet counts and mean platelet volume (MPV) are reduced in patients with Gilbert's syndrome.

How Can We Prevent Jaundice of Gilbert's Syndrome?

Gilbert syndrome can not be prevented, as it is inherited. To prevent jaundice, try to avoid things that make the bilirubin levels rise.

• Do not skip meals.

• Drink plenty of fluids.

• Use relaxation techniques and some other methods to reduce stress.

• Get a night of good sleep: get seven to eight hours of sleep.

• Limit alcoholic drinks.

• Skip longer and more strenuous workouts.

What are the Medications to Be Avoided With Gilbert's Syndrome?

Gilbert's syndrome is a mild condition that does not cause any severe problems. The liver enzyme that breaks down bilirubin also breaks down certain medicines, including:

• Acetaminophen.

• Camptosar (Irinotecan) - is a cancer drug.

• Monoclonal antibodies which are used to treat autoimmune disorders.

• Protease inhibitor drugs which are used to treat human immunodeficiency virus and hepatitis C.

Having Gilbert's syndrome and taking these medications may increase these medications' side effects like diarrhea. If you have Gilbert's syndrome, consult with your doctor before taking any new medications.

Conclusion:

Gilbert’s syndrome is the most common inherited disorder of bilirubin metabolism. Gilbert's syndrome does not affect the functioning of the liver. People with Gilbert’s syndrome do not experience serious long-term issues and can lead long and healthy lives.