Gilbert's syndrome: symptoms and treatment, the causes of Gilbert's disease
What it is? Gilbert's syndrome is a benign, chronic hereditary disorder of bilirubin metabolism, which is manifested by unconjugated hyperbilirubinemia in the serum and episodes of jaundice.
Every tenth inhabitant of the Earth suffers from this disease and for genetic pathology this frequency is high enough.
Gilbert's disease is caused by a defect in the UGT 1A1 gene, which encodes the uridine diphosphate-glucuronyl transferase enzyme.
A mutation in the promoter region of the gene leads to an increase in TA repeats( greater than 6) and a decrease in the functional activity of this hepatic enzyme. As a result, conjugation of indirect bilirubin is disturbed and its concentration in the blood increases.
Gilbert syndrome can occur at any age under the influence of various factors. It is provoked:
This mechanism of inheritance suggests that people suffering from Gilbert's syndrome may well have healthy descendants, and their own parents do not necessarily have to suffer from this ailment.
Gilbert's syndrome and its symptoms are most common during adolescence and adolescence and are diagnosed on a random clinical examination. Since the main symptom of Gilbert's disease is mild jaundice, many patients do not know about their illness.
Eye proteins and skin become yellow when the bilirubin level is higher than certain values. In most cases, only the sclerosis is present, some people notice a discoloration of the skin.
Not very often there is a slight neurological symptoms in the form of dizziness, asthenia, weakness, sleep disturbances. There is also an asymptomatic course, when the disease is indicated only by a 2-5-fold increase in bilirubin.
The diagnosis of the disease is quite complicated. The fastest syndrome Gilbert can be identified through direct DNA-diagnosis, the essence of which is in determining the number of TA-repeats in the gene. But often this analysis is used as the final confirmation in case it is impossible to obtain a response about the presence of pathology in other ways.
The attending physician is guided by physical methods( questioning, examination) and laboratory research. In addition to general blood and urine tests, the patient is tested with phenobarbital and nicotinic acid, and also observes the change in the level of bilirubin while reducing the amount of absorbed food.
From the instrumental diagnostic methods, ultrasound of the abdominal cavity is practiced. Special attention is paid to the size of the liver, the presence of gallstones, its shape and wall thickness.
To turn off liver cirrhosis, a puncture biopsy is performed. A special needle is inserted through the right side, with which a sample of hepatic tissue with dimensions up to 1 mm is obtained. This examination is carried out under the supervision of ultrasound. An alternative to biopsy is fibroscanning, which is performed without a puncture with the help of a special fibroscan apparatus and allows detecting structural changes in the liver with diagnostic accuracy up to 92-99%.Results are evaluated instantly.
The main means for the treatment of Gilbert's syndrome is phenobarbital - inducer of enzymes of the monooxidase system of hepatocytes, under the influence of which the level of bilirubin decreases, and dyspeptic phenomena also disappear. Among the side effects of the drug is lethargy and drowsiness, so it is recommended to take it in the minimum amount for the night.
With an increase in bilirubin to 50 μmol / l and poor health, you can conduct hemosorption - the extrarenal purification of blood from toxic substances. Bilirubin begins to decline already during the procedure itself and the condition improves. An overestimated level of bilirubin leads to a change in the biliary composition and to the formation of concrements in the gallbladder. To prevent this, a preventive course is recommended( up to 2-3 times a year).B vitamins are also shown, a sparing diet, where fats, alcohol and products with preservatives are reduced( table number 5).
In the period of exacerbations - hepatoprotectors( karsil).The success of treatment depends on the therapy of chronic infectious foci and diseases of the biliary tract.
Great weight has compliance with the regimes of work, rest and nutrition. There should not be significant interruptions between meals and physical overloads. Eat small meals at least 4 times a day, which is well reflected in the process of excretion of bile. Vegetarianism in Gilbert's syndrome is unacceptable.
Given the hereditary nature, a complete cure for Gilbert's syndrome is currently impossible. The prognosis is favorable since the disease proceeds benignly.
Some authors consider it as a variant of the norm. Hyperbilirubinemia is noted throughout life, but its duration and quality do not affect this fact. Patients should be aware of the fact that physical and psycho-emotional overstrain, as well as gaps in meals are directly related to yellowing of the skin.
Every tenth inhabitant of the Earth suffers from this disease and for genetic pathology this frequency is high enough.
Causes of Gilbert's syndrome
Gilbert's disease is caused by a defect in the UGT 1A1 gene, which encodes the uridine diphosphate-glucuronyl transferase enzyme.
A mutation in the promoter region of the gene leads to an increase in TA repeats( greater than 6) and a decrease in the functional activity of this hepatic enzyme. As a result, conjugation of indirect bilirubin is disturbed and its concentration in the blood increases.
Gilbert syndrome can occur at any age under the influence of various factors. It is provoked:
- by colds;
- stressful situations;
- with acute viral hepatitis;
- by taking certain medications;
- by physical intensive labor;
- menstruation in women;
- by fasting;
- drinking alcohol;
- errors in nutrition.
This mechanism of inheritance suggests that people suffering from Gilbert's syndrome may well have healthy descendants, and their own parents do not necessarily have to suffer from this ailment.
Signs and Symptoms of Gilbert's Disease
Gilbert's syndrome and its symptoms are most common during adolescence and adolescence and are diagnosed on a random clinical examination. Since the main symptom of Gilbert's disease is mild jaundice, many patients do not know about their illness.
Eye proteins and skin become yellow when the bilirubin level is higher than certain values. In most cases, only the sclerosis is present, some people notice a discoloration of the skin.
Gilbert syndrome can be expressed in weight in the right upper quadrant, general malaise, digestive tract disorders, painful sensations in the abdomen, increased pigmentation of the skin. The liver can grow moderately in size.
Not very often there is a slight neurological symptoms in the form of dizziness, asthenia, weakness, sleep disturbances. There is also an asymptomatic course, when the disease is indicated only by a 2-5-fold increase in bilirubin.
Diagnosis for Gilbert's syndrome
The diagnosis of the disease is quite complicated. The fastest syndrome Gilbert can be identified through direct DNA-diagnosis, the essence of which is in determining the number of TA-repeats in the gene. But often this analysis is used as the final confirmation in case it is impossible to obtain a response about the presence of pathology in other ways.
The attending physician is guided by physical methods( questioning, examination) and laboratory research. In addition to general blood and urine tests, the patient is tested with phenobarbital and nicotinic acid, and also observes the change in the level of bilirubin while reducing the amount of absorbed food.
From the instrumental diagnostic methods, ultrasound of the abdominal cavity is practiced. Special attention is paid to the size of the liver, the presence of gallstones, its shape and wall thickness.
To turn off liver cirrhosis, a puncture biopsy is performed. A special needle is inserted through the right side, with which a sample of hepatic tissue with dimensions up to 1 mm is obtained. This examination is carried out under the supervision of ultrasound. An alternative to biopsy is fibroscanning, which is performed without a puncture with the help of a special fibroscan apparatus and allows detecting structural changes in the liver with diagnostic accuracy up to 92-99%.Results are evaluated instantly.
Treatment of Gilbert's syndrome
The main means for the treatment of Gilbert's syndrome is phenobarbital - inducer of enzymes of the monooxidase system of hepatocytes, under the influence of which the level of bilirubin decreases, and dyspeptic phenomena also disappear. Among the side effects of the drug is lethargy and drowsiness, so it is recommended to take it in the minimum amount for the night.
With an increase in bilirubin to 50 μmol / l and poor health, you can conduct hemosorption - the extrarenal purification of blood from toxic substances. Bilirubin begins to decline already during the procedure itself and the condition improves. An overestimated level of bilirubin leads to a change in the biliary composition and to the formation of concrements in the gallbladder. To prevent this, a preventive course is recommended( up to 2-3 times a year).B vitamins are also shown, a sparing diet, where fats, alcohol and products with preservatives are reduced( table number 5).
In the period of exacerbations - hepatoprotectors( karsil).The success of treatment depends on the therapy of chronic infectious foci and diseases of the biliary tract.
Great weight has compliance with the regimes of work, rest and nutrition. There should not be significant interruptions between meals and physical overloads. Eat small meals at least 4 times a day, which is well reflected in the process of excretion of bile. Vegetarianism in Gilbert's syndrome is unacceptable.
Forecast of the disease
Given the hereditary nature, a complete cure for Gilbert's syndrome is currently impossible. The prognosis is favorable since the disease proceeds benignly.
Some authors consider it as a variant of the norm. Hyperbilirubinemia is noted throughout life, but its duration and quality do not affect this fact. Patients should be aware of the fact that physical and psycho-emotional overstrain, as well as gaps in meals are directly related to yellowing of the skin.