What is Gilbert's Syndrome?
Gilbert's syndrome is an inherited disorder of the metabolism of bilirubin, a yellow-orange pigment derived from the breakdown of aged or damaged red blood cells. This condition, first described by Gilbert and Lereboullet in 1901, is quite common.
It generally occurs after puberty and is more common in men than in women; most of the time it is harmless and symptom-free, while life expectancy is absolutely normal.
In people suffering from Gilbert's syndrome, there is therefore a slight indirect hyperbilirubinemia (see the article on bilirubin to learn more about the metabolism of the substance).
Causes and transmission
The modalities of origin of Gilbert's syndrome are still not completely clear. In this regard, autosomal dominant and autosomal recessive transmissions have been suggested; this latter hypothesis currently appears more plausible.
In patients with Gilbert's syndrome, due to genetic mutations of the UGT1A1 gene there is an "inadequate synthesis and / or activity of the" enzyme "uridine diphosphogluconate glucuronyltransferase - isoform 1A1" involved in the metabolism of bilirubin.
Symptoms
Gilbert's syndrome is characterized by chronic indirect hyperbilirubinemia and modest intermittent jaundice; all without any cause of morphological or functional liver disease being clinically identifiable.
Blood tests show serum levels of indirect bilirubin only slightly above normal. However, the same factors that in healthy people produce a slight increase in these values, in patients with Gilbert's syndrome cause abnormal increases. These factors include stress, infections, prolonged fasting, taking certain medications, dehydration, menstruation and intense physical exertion.
When present, the most common symptoms of Gilbert's disease include fatigue, weakness, vague abdominal pain, dyspepsia, anorexia (lack of appetite), and mild yellow discoloration of the eye and skin (jaundice). It is important to note that these symptoms are common to other and much more serious diseases, such as hepatitis, cirrhosis, obstruction of the bile ducts and tumors of the liver or pancreas; therefore, in the event, it is good to report them immediately to your doctor. In about 40% of subjects with Gilbert's syndrome there is also a reduction in the mean erythrocyte life.
Because of the asymptomaticity that often accompanies it, in many cases Gilbert's syndrome is occasionally diagnosed during routine tests, conducted to investigate the presence of other conditions or diseases.
The diagnosis is made through a simple blood test, which in case of positivity shows slightly increased indirect bilirubin levels, when the other markers of liver function remain normal. Since in people with Gilbert's syndrome the indirect bilirubinemia varies in relation to the above factors, the test can be repeated several times or be performed after a 24-hour fast. A possible liver ultrasound will exclude any other disease, hepatocellular or biliary tract, potentially responsible for the symptoms felt by the patient.
Treatment, care and precautions
Being a genetic disease, Gilbert's syndrome does not yet know adequate treatments; however, since in most cases it does not cause any problems, it generally does not require any treatment. The patient with Gilbert's syndrome is however invited to follow a lifestyle that is more attentive to the health of his liver, avoiding fluoridated water (fluoride is an enzymatic inhibitor) and certain dietary excesses (alcohol, fried foods, foods and protein supplements, and foods rich in fat, especially if cooked); it is also useful to learn how to manage stress and try to prevent infections, even the most trivial (eg washing hands often). it is particularly important to inform your doctor or pharmacist before taking any drug; the enzyme deficiency can in fact amplify the side effects, including those of the common paracetamol (tachipirina). Enzyme inducers, such as phenobarbital, can be administered to promote the regression of the " jaundice when it causes major cosmetic concerns or psychological repercussions to the patient with Gilbert's syndrome.
