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Gilbert’s syndrome, or familial hyperbilirubinemia, is a metabolic disorder whose origin lies in genetics. Does it happen that after the flu, a stressful period or very intense physical exertion, the whites of your eyes and skin turn slightly yellow? If so, see a doctor.
Gilbert’s syndrome – what is it?
Gilbert’s syndrome was first described by the French physician Augustin Gilbert, who in 1901, together with Pierre Lereboullet, published a research paper on the disease. Gilbert’s syndrome also occurs under the following names: congenital liver dysfunction, mild familial unconjugated hyperbilirubinemia, recurrent juvenile jaundice, Meulengracht’s disease, and Meulengracht’s jaundice.
Men suffer from Gilbert’s syndrome more often – the disease affects 5% to 10% of the general population. The reason for its formation is a mutation of the gene located in chromosome 2, encoding UDP glucuronyl transferase 1A1. This results in a decrease in the activity of the said enzyme and damage to the conjugation of bilirubin with glucuronic acid. The disease is inherited autosomal.
Gilbert’s syndrome – symptoms
Symptoms of people with Gilbert’s syndrome depend on the individual case and are not specific. One of the most characteristic symptoms is mild jaundice – the person with yellow eyes and skin are yellow. Moreover, sufferers are not always aware that they are carriers. The worsening of symptoms occurs as the bilirubin level increases. The most common are:
- tiredness,
- problems with concentration,
- excessive sweating,
- stomach pain,
- anxiety.
A person with Gilbert’s syndrome may feel like they have the flu due to high temperature, headache and other flu-like symptoms. The occurrence of symptoms is periodic and may be caused by factors such as: improper diet, fasting, dehydration, exercise. Symptoms most often appear in men between 15 and 30 years of age, sometimes in children, and may contribute to the prolongation of physiological jaundice in newborns.
Gilbert’s syndrome – diagnosis
When diagnosing the disease, the following tests are used:
- starvation test,
- provocation test after administration, incl. nicotinic acid
- a symptom relief test with a low dose of phenobarbital
- liver biopsy.
A clinical picture and laboratory tests are needed to diagnose Gilbert’s syndrome. Sometimes it will also be helpful to determine what the activity of transaminases is, for example. At the diagnostic stage, it should also be determined whether there are no hemolytic causes and whether the patient is infected with HCV, HBV and Wilson’s disease. Thanks to the molecular examination, it is possible to unequivocally determine the presence of the UGT1A1 gene mutation.
The diagnosis of indirect hyperbilirubinemia requires consideration of whether there are also haematological diseases, Crigler-Najjar syndrome and other functional hyperbilirubinemia. The patient should also be checked for drug toxicity and hepatitis B and C should be ruled out.
During the diagnostic stage, a differential diagnosis is performed, which includes a complete blood count with a white blood cell smear and the assessment of the presence of spherocytes. In addition, the prothrombin index INR, the concentration of ceruloplasmin, the concentration of alpha 1-antiprotease in the blood serum and ultrasound examination of the abdominal cavity are also tested.
Genetic testing for Gilbert’s syndrome offered by Medgen can also be performed for Gilbert’s syndrome. The results are available after 1-2 weeks.
Classic liver biopsy does not show significant deviations from the norm. Whereas electron microscopy examination visualizes damage to the hepatocyte cell membrane (the cell that forms the basis of the liver parenchyma) in the area of the vascular pole.
Gilbert’s syndrome – treatment
The disease does not pose a health risk, but it may take a lifetime to treat it. Its course is mild, which means that the patient does not need to use medications and dietary supplements. However, it is worth knowing that the UGT1A1 enzyme is responsible for the metabolism of certain hormonal drugs, so in this case the risk of side effects will be higher.
An important element in the treatment of Gilbert’s syndrome is leading an appropriate lifestyle – the patient should not drink alcohol and use medications only after prior consultation with a doctor. Diets low in calories and all fasting are harmful to the patient. However, when such a person wants to get rid of excess body weight, they should use the support of a dietitian and hydrate the body at the same time – it is advisable to drink at least 1,5 liters of water a day and avoid eating large portions of food.
Treatment of Gilbert’s syndrome does not require the use of pharmacological agents and a special diet. It is also inadvisable to play sports intensively. A difficulty in the treatment of Gilbert’s syndrome is the increased risk of toxicity of drugs in standard doses – these drugs include anticancer drugs, non-steroidal anti-inflammatory drugs and anticonvulsants.
The disease does not cause cirrhosis of the liver. Children and adolescents with Gilbert’s syndrome can still take part in sports activities, e.g. during PE lessons. What’s more, they can also actively practice all kinds of sports, as long as they make sure that the body does not overexert itself. There are no studies on the basis of which it could be established that people with Gilbert’s syndrome live shorter lives.
Gilbert’s syndrome and other diseases
It turns out that as many as 50% of people suffering from Gilbert’s syndrome have coexisting haemolytic anemia, favoring the development of gallstone disease. Another common ailment among patients is gallstone disease. It has been scientifically confirmed that patients with schizophrenia have elevated levels of total bilirubin in the blood serum. Still, people with Gilbert’s syndrome can be organ donors.
People with Gilbert’s syndrome are less likely to suffer from Crohn’s disease and cardiovascular diseases – it is probably due to the protective properties of biliverdin and oxygenase. In this group of patients, diseases of the cardiovascular system are less common – compared to the rest of the population, the risk of developing these diseases is several times lower.
The presence of Gilbert’s syndrome is not a factor that may increase the incidence of liver tumors. However, in this group of patients the risk of developing breast and colorectal cancer is higher, but the risk of developing lymphomas and endometrial cancer is lower. It is also worth mentioning that patients diagnosed with Gilbert’s syndrome are more often hypersensitive to certain drugs, e.g. non-steroidal anti-inflammatory drugs.