What is Gilbert Syndrome

Gilbert syndrome is a genetic condition that affects the way in which the liver handles bilirubin. Bilirubin is naturally created when red blood cells are broken down. The condition is present at birth but often isn’t noticed until later in life and is commonly discovered incidentally during routine blood tests. Gilbert syndrome is usually harmless and in most cases causes mild yellowing of the skin or eyes, called jaundice.

What Is Bilirubin?

Bilirubin is a substance created by the natural breakdown of old red blood cells. Bilirubin is then incorporated into bile, the yellow/green substance secreted by the liver and gallbladder into the intestine as a part of digestion. The rise in bilirubin levels associated with Gilbert syndrome is caused by differences in an inherited gene, which decreases the amount of the enzyme that helps metabolize and transport the bilirubin.  

How Common Is Gilbert Syndrome?

Gilbert syndrome impacts somewhere between 2–20% of people in the world, can vary by race and ethnicity, and is more common in males.

What Are the Symptoms of Gilbert Syndrome?

The most common symptom of Gilbert syndrome is the yellowing of the skin and/or eyes, called jaundice, which is caused by excess buildup of bilirubin in the blood. Gilbert syndrome does not cause any other symptoms, though the yellowing of the eyes or skin can be more noticeable during times of stress, illness or fasting.  

What Is the Cause of Gilbert Syndrome?

Gilbert syndrome is caused by differences in a gene that might have been inherited from a parent. Those differences lead to a decrease in the enzymes that handle the metabolism of bilirubin, resulting in excess levels in the blood.  

What Are the Complications of Gilbert Syndrome?

Gilbert syndrome is a liver condition with no associated long-term complications. However, the enzyme that is impacted in Gilbert syndrome is also involved in the metabolism of certain specialized drugs. Therefore, it is important to tell your doctor if you have Gilbert syndrome.  

How Is Gilbert Syndrome Diagnosed?

The most common methods of diagnosing Gilbert syndrome include:

• Blood testing, including blood counts, levels of total bilirubin, direct (conjugated) bilirubin, indirect (unconjugated) bilirubin, and other liver enzymes
• Genetic testing

While a standard blood test is the primary method for detecting elevated levels of bilirubin, complete blood count, liver function and genetic tests may be ordered to rule out other possible health conditions including hemolytic disorders (blood disorders), other liver diseases, or gallstones (hardened deposits in the gallbladder).  

How Is Gilbert Syndrome Treated?

There is no required treatment for Gilbert syndrome. The most common symptom, the yellowing of the skin or eyes, typically resolves on its own over time.  

What Is the Prognosis for People Who Have Gilbert Syndrome?

There are no long-term complications or health concerns associated with Gilbert syndrome. In fact, some data report that Gilbert syndrome can have beneficial, antioxidant effects. 

When Should I Call a Healthcare Provider Regarding Gilbert Syndrome?

If your child develops symptoms such as yellowing of the skin or eyes (jaundice), dark urine, or abdominal pain, it’s important to contact your pediatrician. They may recommend further evaluation by gastrointestinal or liver doctors to better assess your child’s symptoms and determine whether testing is needed. Although Gilbert syndrome is a harmless condition, your doctor may want to rule out other conditions, such as blood disorders or liver diseases, which are also tied to higher bilirubin levels. 

CHOP’s Areas of Expertise and Research for Gilbert Syndrome

The Division of Gastroenterology, Hepatology and Nutrition (GI) at Children’s Hospital of Philadelphia (CHOP) is one of the largest and most robust pediatric GI centers in the world. A team of more than 60 gastroenterologists, including Gilbert syndrome specialists, and hundreds of staff support a variety of specialized programs and clinical services for children with gastrointestinal, liver, pancreatic and nutritional concerns.  

For children requiring care for rare liver disease, the Fred and Suzanne Biesecker Pediatric Liver Center at CHOP provides acute diagnosis, cutting-edge treatment and comprehensive support for patients and families, delivered by a world-class multidisciplinary team of experts.  

Leading the world in pediatric research, CHOP also utilizes clinical, translational and basic research to better understand the gastrointestinal system and all related conditions in the pancreas and liver, to improve the health and well-being of children with GI conditions.