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 Diseases and Conditions
Gilbert's syndrome
From MayoClinic.com
Special to CNN.com Introduction Gilbert's (zheel-BAYRZ) syndrome is a common, mild liver disorder in which the liver doesn't properly process a substance called bilirubin, which is produced by the breakdown of red blood cells. Also known as constitutional hepatic dysfunction, unconjugated benign bilirubinemia and familial nonhemolytic jaundice, Gilbert's syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert's syndrome is usually not considered a disease because of its benign nature. Most people who have the disorder find out by accident, when they have a blood test that shows elevated bilirubin levels. Gilbert's syndrome affects 3 percent to 10 percent of the U.S. population. More males than females have the condition. Signs and symptoms As an inherited condition, Gilbert's syndrome is present from birth. Although it rarely causes symptoms, it may raise bilirubin enough to produce mild jaundice. While the bilirubin does not reach a dangerous level, jaundice, if it occurs, may look disconcerting. Typically, excess bilirubin turns the whites of your eyes yellow before affecting your skin. If the bilirubin level keeps rising, your skin may develop a yellowish tinge. A number of factors may increase bilirubin if you have Gilbert's syndrome. These may include:
Some people with Gilbert's experience episodes of fatigue, weakness and abdominal pain. However, it's not known if Gilbert's actually causes such symptoms, or if they're related to stress or other conditions. Causes Your liver naturally produces bilirubin, which is a yellowish pigment. It's a normal waste product from the breakdown of old red blood cells. Bilirubin travels through your bloodstream to the liver. In normal functioning, an enzyme in liver cells helps break down the bilirubin and remove it from the bloodstream. The bilirubin passes from the liver into the intestines with bile. It's then excreted by the body through stool. A small amount of bilirubin remains in the blood. People with Gilbert's syndrome, though, inherit an abnormal gene that controls the enzyme that helps break down bilirubin. This gene abnormality results in a lower level of the enzyme. Consequently, excessive amounts of a form of bilirubin called unconjugated bilirubin can build up in the blood. Some experts believe that Gilbert's syndrome is simply a normal variation in the range of bilirubin levels. Risk factors Other than the chance of inheriting abnormal genes, there are no known risk factors that increase the likelihood that you'll get Gilbert's syndrome. When to seek medical advice If you notice a yellowish tinge to your skin or the normally white portions of your eyes, let your health care provider know as soon as possible. A variety of conditions other than Gilbert's syndrome can cause jaundice, and medical tests and exams can rule out serious illnesses. Screening and diagnosis If you have jaundice, your health care provider may suspect that you have Gilbert's syndrome or perhaps another condition. Often, though, Gilbert's is found purely by accident when you have blood work for other health reasons, such as an illness, surgery or to buy a life insurance policy. Although it's present from birth, Gilbert's syndrome usually isn't diagnosed until puberty or later, when bilirubin production increases. Your doctor may do a physical exam and order additional blood tests. With Gilbert's, unless you have an episode of jaundice, there are no physical signs or symptoms. Common blood tests include:
A diagnosis of Gilbert's syndrome can usually be made from blood tests. With Gilbert's, all of the results will typically be normal except for the mildly increased level of unconjugated bilirubin. When you have Gilbert's syndrome, the level of bilirubin in your blood may fluctuate. It's not always higher than the normal range. If your initial blood test shows a normal level of bilirubin, your doctor may suggest repeating the tests a couple of times. Rarely, your doctor may suggest other tests, including:
When you have jaundice or a high bilirubin level, it's important to ensure that you don't have a more serious liver condition. Your doctor may recommend other tests to check for such conditions. Complications Gilbert's syndrome can cause episodes of jaundice. However, the jaundice is usually mild and goes away on its own. There are no other known complications of the condition itself, and it won't damage your liver. The low level of the bilirubin-processing enzyme may cause increased side effects with certain medications. The same enzyme also helps the body eliminate certain medications. In particular, irinotecan (Camptosar), a medication used to treat colon cancer, can reach toxic levels in people with Gilbert's, causing severe diarrhea. Because of this potential effect with certain medications, talk to your doctor before taking any new medications when you have Gilbert's syndrome. Treatment Because Gilbert's syndrome is essentially a mild, harmless condition, it doesn't require treatment. The level of jaundice associated with Gilbert's is typically harmless as well, and goes away on its own. People with Gilbert's syndrome don't typically need long-term monitoring of their condition or repeat blood tests. But consult your doctor if you notice worsening jaundice or other symptoms. If you're distressed by jaundice, the barbiturate medication phenobarbital may reduce bilirubin levels. Prevention Gilbert's syndrome is an inherited genetic disorder. Development of the disorder isn't related to lifestyle habits or environment. The only way to theoretically prevent the condition is to keep parents from passing the abnormal gene that causes it on to their children. But more than half the people in the general population carry one copy of this abnormal gene, making it very common. If two people with this abnormal gene have a child, they may pass along the genetic defect that causes Gilbert's — but not always. Not everyone who has two copies of this abnormal gene gets Gilbert's syndrome. This means you may have the condition without a family history of it. In contrast, everyone with Gilbert's does have two copies of this abnormal gene. Self-care Certain events in your life can trigger episodes of higher bilirubin levels in Gilbert's syndrome, leading to jaundice. Doing what you can to manage those situations can help keep bilirubin under control and perhaps prevent bouts of jaundice. These steps include:
Coping skills Being diagnosed with any medical condition can be frightening initially. But remember Gilbert's is a benign condition. People with Gilbert's have a normal life span. If you do develop jaundice at times, remember that it's not harmful, that it's likely related to stressors in your life and that it may simply go away on its own. April 18, 2006 |
