Gilbert’s syndrome

Overview

Gilbert’s syndrome is an inherited liver condition characterized by a deficiency in liver enzymes responsible for maintaining normal bilirubin levels. This common and harmless liver condition usually does not require any specific treatment.

Bilirubin is a yellow waste product naturally produced by the body when it breaks down old red blood cells. When the liver cannot efficiently process bilirubin, it can lead to hyperbilirubinemia or an excess of bilirubin.

Gilbert’s syndrome typically goes unnoticed until it is incidentally discovered, often through routine blood tests that reveal elevated bilirubin levels.

Symptoms

About one in three persons who have Gilbert’s syndrome are without symptoms. If it does, it is primarily characterized by jaundice, resulting from slightly elevated bilirubin levels in the blood. Although jaundice can cause the skin and eye whites to turn yellow, it is not dangerous.

People with Gilbert’s syndrome may experience increased bilirubin levels due to various factors such as illness (such as a cold or flu), fasting or consuming a very low-calorie diet, dehydration, menstruation, strenuous exercise, and stress.

In some cases, people with Gilbert’s syndrome or jaundice also experience:

• Clay-colored feces or dark-colored pee
• Loss of appetite
• Inability to concentrate
• Lightheadedness
• Digestive issues, including nausea, diarrhea, and abdominal pain
• Exhaustion
• Chills and fever are flu-like symptoms

If persistent gastrointestinal issues, dark-colored urine, clay-colored stool, fever with chills, or jaundice is experienced, it is advisable to contact a healthcare provider. These symptoms may indicate underlying health concerns that require evaluation and guidance.

Causes

The body produces bilirubin by breaking down old red blood cells, forming a yellowish pigment. This bilirubin travels to the liver through the bloodstream, where an enzyme breaks it down and removes it. The liver releases the processed bilirubin into the intestines with bile, and it is eventually expelled in stool. A minor amount of bilirubin is retained in the blood.

A properly functioning UGT1A1 gene produces liver enzymes responsible for breaking down bilirubin and eliminating it from the body. In contrast, individuals with a mutated UGT1A1 gene generate only around 30% of the necessary enzymes. Accumulation of excess bilirubin in the bloodstream occurs when bilirubin fails to transfer into bile as it normally would.

The mutated gene that causes Gilbert syndrome is frequently passed down through families, or from a parent to a child. Gilbert syndrome is often caused by two altered copies, with many individuals carrying a single copy of this gene.

Risk factors

Gilbert’s syndrome is an inherited liver condition characterized by a deficiency in liver enzymes responsible for maintaining normal bilirubin levels. This common and harmless liver condition usually does not require any specific treatment.

Bilirubin is a yellow waste product naturally produced by the body when it breaks down old red blood cells. When the liver cannot efficiently process bilirubin, it can lead to hyperbilirubinemia or an excess of bilirubin.

Gilbert’s syndrome typically goes unnoticed until it is incidentally discovered, often through routine blood tests that reveal elevated bilirubin levels.