Sie sind auf Seite 1von 2

Gilberts Syndrome

Gilbert's syndrome is due to a genetic mutation that causes underactivity of the conjugating
enzyme system bilirubin-uridine diphosphate glucuronyl transferase (bilirubin-UGT). This is the only enzyme that detoxifies bilirubin, a toxic product of the natural breakdown of red blood cells. Bilirubin-UGT is responsible for conjugating bilirubin into bilirubin monoglucuronides and diglucuronides and is located primarily in the endoplasmic reticulum of hepatocytes. BilirubinUGT is one of several UGT enzyme isoforms responsible for the conjugation of a wide array of substrates that include carcinogens, drugs, hormones, and neurotransmitters. This enzymatic shortage leads to an excess of bilirubin (and other toxins) in the blood serum

Cause Gilbert's syndrome is an autosomal recessive disorder, which is a condition requiring both carrier parents to contribute an affected gene for a disease to take effect. The syndrome may be precipitated by Dehydration Fasting Menstrual periods Stress from a current illness or vigorous exercise. Mortality/Morbidity: Gilbert syndrome is a benign condition with no associated morbidity or mortality.Although it is one of the most common causes of unconjugated hyperbilirubinemia, not causing harm, there are others to rule out such as Crigler-Najjar syndrome which is dangerous and inherited from the same gene. Race: Gilbert syndrome is not restricted to any ethnic group and occurs in persons of all races. Sex: Population studies show that Gilbert syndrome occurs predominately in men, with a male-to-female ratio ranging from 2-7:1. Age Gilbert syndrome is usually diagnosed around puberty, possibly because of the inhibition of bilirubin glucuronidation by endogenous steroid hormones. In older persons, the diagnosis is usually made when unconjugated hyperbilirubinemia is noted on routine blood test results or unmasked by an intercurrent illness or stress. Signs and Symptoms At least 30% of patients are asymptomatic, although nonspecific complaints described are common:

Feeling tired all the time (fatigue) Loss of appetite Nausea or dizziness Irritable bowel syndrome (IBS) Difficulty maintaining concentration

Very dark urine. Abdominal cramps Abdominal discomfort that is hard to characterize which often eludes diagnosis. Physical Symptoms are Mild jaundice Diagnosis Gilberts syndrome is often diagnosed in late teens and early twenties. In most cases doctors should be able to establish diagnosis on the basis of liver function tests (LFTs) and jaundice, if seen. Laboratory Studies o CBC count (including reticulocyte count and blood smear) is useful as a screening test to exclude hemolysis. o Lactate dehydrogenase levels are elevated in persons with hemolysis but are normal in those with Gilbert syndrome. o Liver function tests: With the exception of unconjugated hyperbilirubinemia, standard liver function test results are normal. A familial increase in serum alkaline phosphatase levels has been reported in persons with Gilbert syndrome. o Blood tests before and after a meal in which a diet is prescribed on a reduced calorie intake for 48-hours. Persons with Gilbert syndrome show an increase their bilirubin levels following this. Imaging Studies o Imaging studies are not required to confirm a diagnosis of Gilbert syndrome. Procedures o Liver biopsies are not performed routinely and are rarely necessary. Treatment Patients may report vague abdominal discomfort and general fatigue for which no cause is found. These episodes usually resolve spontaneously, and no treatment is required, except supportive care. The most important aspect of treatment once the diagnosis is established is reassurance. Patients with Gilbert syndrome should be informed of its benign nature and that hyperbilirubinemia is not associated with increased morbidity. It has an excellent prognosis and is associated with normal life expectancy, which must be made perfectly clear to the patient. Diet: Normal. Activity: No activity restrictions are necessary Deterrence/Prevention Avoid known risk factors for precipitating hyperbilirubinemia (eg, dehydration, fasting). Prognosis Gilbert syndrome is a common and benign condition. The bilirubin disposition may be regarded as falling within the range of normal biological variation. It has no deleterious associations and an excellent prognosis, and those who have it can lead a normal lifestyle. This is further confirmed by studies that report excellent results in patients undergoing living donor liver transplantation from donors with Gilbert syndrome.