Making sense of Gilbert’s syndrome, together

Gilbert’s disease, more commonly called Gilbert’s syndrome, is a common inherited condition in which the liver is slower than usual at processing bilirubin, a yellow pigment made when red blood cells break down.

The result is a mildly raised level of bilirubin in the blood that rises and falls over time. Most people have no symptoms, and some notice mild, temporary yellowing of the skin or eyes. It is harmless, usually needs no treatment, and does not damage the liver.

No. Gilbert’s syndrome is not an autoimmune disease. It is a genetic condition caused by a change in the UGT1A1 gene, which reduces the activity of a liver enzyme that processes bilirubin.

In an autoimmune disease the immune system attacks the body’s own tissue. In Gilbert’s syndrome the immune system is not involved. Autoimmune liver conditions such as autoimmune hepatitis can also raise bilirubin, but they are separate conditions and usually cause other abnormal liver test results. If your bilirubin is raised along with other liver results, your doctor can work out which is responsible.

Jaundice is a yellow tint to the skin, the whites of the eyes and the inside of the mouth. It happens when there is more bilirubin in the blood than the liver can clear.

Jaundice is a sign rather than a disease in itself, and it has many possible causes. It usually becomes visible once bilirubin rises above roughly 2 to 3 mg/dL (34 to 51 µmol/L). On brown or black skin it is often easiest to spot in the whites of the eyes. Jaundice that is new, or that has not been explained, should always be checked by a doctor.

No, jaundice is not contagious.

Jaundice is a symptom caused by a build-up of bilirubin, and the underlying cause determines whether there is any risk of infection. Gilbert’s syndrome is inherited and harmless, not an infection. If jaundice is new, persistent or accompanied by other symptoms, speak with a doctor to identify the cause.

Jaundice is caused by a build-up of bilirubin in the blood. The causes fall into three groups:

• Before the liver: too many red blood cells breaking down at once (hemolysis), as in hemolytic anemia.
• In the liver: hepatitis (viral, alcohol-related or autoimmune), cirrhosis, some medicines, and inherited conditions such as Gilbert’s syndrome.
• After the liver: a blocked bile duct, for example from gallstones or a growth in the pancreas.

Newborn jaundice is also common in the first days of life because a baby’s liver is still maturing. It is usually mild and is monitored by the baby’s care team.

Bilirubin is an orange-yellow pigment made when old red blood cells are broken down. The liver converts it into a water-soluble form, it leaves the body in bile and stool, and it is what gives stool its brown color.

Blood tests report two types. Unconjugated (indirect) bilirubin has not yet been processed by the liver. Conjugated (direct) bilirubin has been processed and dissolves in water. In Gilbert’s syndrome it is the unconjugated type that is raised.

In healthy adults, total bilirubin is usually about 0.1 to 1.2 mg/dL (roughly 2 to 21 µmol/L). Reference ranges differ slightly between labs, so compare your result with the range printed on your report.

In Gilbert’s syndrome, total bilirubin is usually mildly raised, typically under 3 mg/dL (51 µmol/L), and most of it is the unconjugated type. Levels move up and down and are often highest after fasting, illness or dehydration. Newborns have different, age-specific ranges.

Values are typical adult ranges and vary by lab, age and sex.

In Gilbert’s syndrome, no. The raised bilirubin is mild, does not damage the liver or brain, and does not shorten life expectancy.

Very high bilirubin from another cause can be serious because it points to an underlying problem such as severe liver disease or a blocked bile duct. In newborns, extremely high unconjugated bilirubin that goes untreated can enter the brain and cause a type of brain damage called kernicterus, which is why jaundice in babies is monitored closely and treated, usually with light therapy (phototherapy). In adults, the danger comes from the underlying condition rather than from bilirubin itself.

Get urgent medical help for jaundice with abdominal pain, fever, confusion or drowsiness, vomiting blood, or black or pale stools. For babies, seek care right away if jaundice appears in the first 24 hours, spreads, or comes with poor feeding or unusual sleepiness.

Bilirubin in urine (bilirubinuria) usually means there is a problem with the liver or bile ducts. Healthy urine contains no detectable bilirubin.

Only conjugated bilirubin dissolves in water, so only that type can pass into urine. Gilbert’s syndrome raises unconjugated bilirubin, so it does not normally cause bilirubin in the urine or dark urine. If it shows up on a urine test, or your urine looks dark brown or tea-colored, ask your doctor to check for causes such as hepatitis, gallstones or a blocked bile duct, especially if you also have pale stools, itching or jaundice.