my friend has gilberts disease what is it?

Answer 1

Gilbert's syndrome
Gilbert’s syndrome is a harmless condition but often causes anxiety before the condition is diagnosed.
Haemoglobin is a chemical in the red cells that carries oxygen to the tissues. One of the breakdown products of haemoglobin is called bilirubin. An enzyme called UDB glucuronyl transferase helps the body get rid of bilirubin. Gilbert’s syndrome is a genetic disorder which means that there is a slight deficiency of this enzyme.
When there is less enzyme than normal, levels of bilirubin increase in the blood and the person may notice jaundice (yellowing of the skin and whites of the eyes). This jaundice may become more pronounced when the person is stressed, either physically or mentally. Thus, jaundice may develop when the person becomes ill with an infection or when stressed, for example when taking an exam.
Gilbert’s is often diagnosed in the late teens and early twenties. The condition is inherited and is relatively common being estimated to affect about 1 person in 20. Men are often affected more than women. The condition usually has no symptoms although some people do complain of stomach pains.
Gilbert’s syndrome is usually detected because of mild jaundice, or because slightly abnormal liver tests are noted when blood tests are performed for unrelated reasons. It is important to make the diagnosis so that the person can be reassured and serious liver disease excluded as a possibility.
The diagnosis can often be made on the basis of simple blood tests. All the liver tests should be normal apart from the serum bilirubin, which is increased.
Different blood tests may need to be carried out, if there are other symptoms. These will look for other reasons that the levels of bilirubin might be raised, such as other undiagnosed liver diseases. It is only rarely that a liver biopsy is necessary. In some cases more specific tests may be needed to confirm the diagnosis and this should be discussed with your specialist.
It is important for the patient to understand that Gilbert’s syndrome is not a disease.

Answer 2

Gilbert's disease is a benign unconjugated hyperbilirubinemia. It may cause fatigue or intermittent jaundice (yellowing of the skin). It is due to an enzyme deficiency. Check out the source below for more exhaustive details...

Answer 3

I thought the long explanations were fairly good. I am suspect of those who gave a "Thumbs down."

Did anyone mention Gilbert was French, and it's pronounced Zheel bair?

Answer 4

Ask Gilbert!

Answer 5

http://www.britishlivertrust.org.uk/content/diseases/gilberts_syndrome.asp

Not good news I'm afraid. Reading between the lines it seems your friends Gilberts are going to swell to the size of ballloons before shrivelling and eventually falling off altogether.
I may have this wriong as I'm not too good with medical jargon

Answer 6

Gilbert's Syndrome

Gilbert's syndrome is a common inherited disorder that affects the processing by the liver of the pigments in the bile called bilirubin. This results in an increase in the level of bilirubin levels in the bloodstream and can lead to a yellowing of the skin and the eyes, that is jaundice. The liver itself is otherwise normal and people with Gilbert's syndrome have a normal life expectancy. It is common and not a dangerous condition in any way.

Enzyme Defect

Gilbert's syndrome is arguably the most common medical syndrome identified. In normal people bilirubin is bound (conjugated) to specific protein(s) by a liver enzyme, called bilirubin-uridine glucuronosyltransferase (bilirubin-UGT), which allows it to be excreted in the bile. It has long been recognised that bilirubin-UGT activity measured in liver biopsies of individuals with Gilbert's syndrome is almost invariably reduced, suggesting that reduced enzyme activity is the source of the impairment in bilirubin metabolism. Thus in Gilbert's syndrome bilirubin is less efficiently excreted into the bile leading to elevated levels of unconjugated bilirubin in the bloodstream.

Clinical and laboratory findings

Gilbert's syndrome is most often recognised in the second or third decade of life and is rarely diagnosed before puberty. The diagnosis is made most often following routine screening blood tests or when fasting associated with surgery or intercurrent illness unmasks the hyperbilirubinemia. Gilbert's syndrome affects 3 to 7% of the population, with males predominating over females by a ratio of 2-7:1.

The normal bilirubin level in the blood is less than 20 umol/L while in Gilbert's syndrome the bilirubin level is usually mildly raised. In most cases is less than 50 umol/L and is always less than 100 umol/L. There is considerable daily and seasonal fluctuation. The bilirubin may be normal on occasion in up to one-third of patients.

Because the liver is otherwise normal in individuals with Gilbert's syndrome, physical examination is normal apart from the occasional presence of jaundice. At least 30% of patients with Gilbert's syndrome are asymptomatic, apart from the presence of mild jaundice, and are unaware of the abnormality until it is detected by incidental laboratory examination or in the course of family studies. Some people may experience a variety of nonspecific and varied symptoms, including vague abdominal discomfort, fatigue, or malaise In general, these symptoms do not correlate with the plasma bilirubin level and are more likely related to anxiety rather than to the underlying disorder in metabolism. In a third group of patients, hyperbilirubinemia may be unmasked during fasting, which usually produces an increase in the plasma unconjugated bilirubin level. Thus, sub clinical individuals may first be detected in association with caloric withdrawal due to an intercurrent febrile illness, "morning sickness" of pregnancy or postoperatively.

Diagnosis and Treatment

The diagnosis of Gilbert's syndrome is suggested by the clinical finding of mild chronic unconjugated hyperbilirubinemia. A family history should be sought and clinical evidence of other liver or blood disorders, including haemolysis (abnormal breakdown of red cells) excluded. Further confirmation of the diagnosis may be achieved by determining the effect of fasting or intravenous nicotinic acid administration on the blood bilirubin concentration. Either manipulation generally results in a two- to threefold rise in plasma bilirubin level, even if the initial bilirubin concentrations are normal. However, not all patients with Gilbert's syndrome respond to these tests, which appear less sensitive and specific for females than males. Other diagnostic manoeuvres that have been advocated are measurement of the effect of phenobarbital on plasma bilirubin concentration, and the administration of a tracer dose of radiolabeled bilirubin for estimation of the percentage of the dose remaining in the plasma after 4 hours.

Given the above considerations, a presumptive diagnosis of Gilbert's syndrome can be made in an essentially asymptomatic individual if he /she has (1) unconjugated hyperbilirubinemia on several occasions; (2) normal results of a complete blood cell count, blood smear, and reticulocyte count; and (3) normal liver enzyme tests (see article on liver function tests) and (4) other disease processes have been excluded. If no further laboratory abnormalities develop on two or three follow-up tests during the next 12 to 18 months, then the presumptive diagnosis becomes definitive. It is conceivable that genetic testing may play a role in the diagnosis of this condition in the future.


Once the diagnosis is established, the most important aspect of management is to reassure the patient with regard to the benign and inconsequential nature of the disorder and the excellent prognosis and to prevent further unnecessary investigations.

Answer 7

It's a complaint of the liver. It does'nt make enough bilirubin. People live with this and it should'nt cause them any problems

Answer 8

i hope you get gilberts disease you ******* idiot