Summary about Disease
Gilbert's syndrome is a mild, inherited liver disorder in which the liver doesn't properly process bilirubin, a yellow pigment produced from the breakdown of red blood cells. This leads to elevated levels of bilirubin in the blood (hyperbilirubinemia), causing jaundice (yellowing of the skin and eyes) in some individuals. It's a relatively common condition and usually harmless, requiring no treatment in most cases.
Symptoms
Many people with Gilbert's syndrome have no symptoms. When symptoms do occur, they are usually mild and infrequent. The most common symptom is jaundice, which can be triggered by:
Illness, such as a cold or the flu
Stress
Dehydration
Fasting or skipping meals
Menstruation
Strenuous exercise
Lack of sleep
Exposure to cold temperatures Other possible, but less common, symptoms include:
Fatigue
Abdominal discomfort
Causes
Gilbert's syndrome is caused by a genetic mutation in the UGT1A1 gene. This gene provides instructions for making an enzyme called uridine diphosphate glucuronosyltransferase (UGT1A1). This enzyme helps to break down bilirubin, so it can be removed from the body. In people with Gilbert's syndrome, the *UGT1A1* gene is mutated, resulting in a reduced amount or less effective UGT1A1 enzyme. This leads to the buildup of bilirubin in the blood. The condition is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for a child to inherit the disorder.
Medicine Used
Generally, no medication is required for Gilbert's syndrome because the condition is benign and usually asymptomatic. In rare cases where jaundice is severe or persistent, a doctor might prescribe phenobarbital to help reduce bilirubin levels. However, this is not a standard treatment and is rarely necessary. Focus is generally on managing triggers and maintaining a healthy lifestyle.
Is Communicable
No, Gilbert's syndrome is not communicable. It is a genetic condition, not an infectious disease. It cannot be spread from person to person.
Precautions
There are no specific precautions necessary to prevent Gilbert's syndrome, as it is a genetic condition. However, individuals with Gilbert's syndrome can take steps to minimize jaundice episodes:
Avoid prolonged fasting or skipping meals.
Stay hydrated.
Manage stress.
Get adequate sleep.
Inform healthcare providers about your condition before starting any new medications, as some drugs can exacerbate jaundice.
How long does an outbreak last?
Jaundice episodes in Gilbert's syndrome are usually temporary and self-limiting. They often last for a few days to a couple of weeks. The duration can vary depending on the trigger and individual factors.
How is it diagnosed?
Gilbert's syndrome is typically diagnosed through:
Blood tests: A complete blood count (CBC) and liver function tests, particularly a bilirubin test, are performed. Elevated unconjugated (indirect) bilirubin levels are a hallmark of the condition. All other liver function tests are usually normal.
Ruling out other conditions: The doctor will rule out other liver diseases or conditions that can cause jaundice, such as hepatitis, gallstones, and hemolytic anemia.
Genetic testing (rarely): In some cases, genetic testing to confirm the UGT1A1 gene mutation may be performed, but this is not always necessary for diagnosis.
Family history: A family history of Gilbert's syndrome may also support the diagnosis.
Timeline of Symptoms
The onset of symptoms is variable. Gilbert's syndrome is usually discovered in adolescence or early adulthood, often during routine blood work or when investigating mild jaundice.
Childhood/Adolescence: Often asymptomatic. May be discovered incidentally.
Adulthood: Jaundice may appear intermittently, triggered by specific events (stress, illness, etc.). Episodes usually resolve without intervention. There is no progressive worsening of symptoms over time.
Important Considerations
Benign Condition: Gilbert's syndrome is generally harmless and does not cause liver damage or long-term health problems.
Medication Interactions: Inform your doctor about your condition before starting any new medications, as some drugs can be metabolized differently in people with Gilbert's syndrome.
No Treatment Needed: In most cases, no treatment is necessary. Lifestyle modifications can help minimize jaundice episodes.
Reassurance: It's important to receive reassurance from a healthcare provider regarding the benign nature of the condition to alleviate anxiety.
Neonatal Jaundice: Babies of mothers with Gilbert's Syndrome have an increased risk of neonatal jaundice and might require monitoring.