Gilbert's syndrome is a chronic disease, the main cause of which is a person’s genetic predisposition. During the period of exacerbation of the pathology, an increase in the level of bilirubins in the blood is observed, and jaundice develops simultaneously.
The disease does not provoke severe disorders of the liver. However, since in this case a malfunction of the hepatic enzyme occurs, the main task of which is the neutralization of toxic substances, the patient may develop serious complications. They are manifested by inflammation of the bile ducts and the formation of stones in the gallbladder.
Symptoms of the disease occur periodically, but throughout the life of the patient. The ICD disease code is K76.8.
What is it in simple words?
In simple terms, Gilbert's syndrome is a pathological deviation characterized by a violation of the bilirubin utilization process. As a result, it gradually accumulates in the body, which is manifested by certain symptoms. The main sign of such a deviation is jaundice.
Gilbert syndrome is a genetic disease that is the most common form of pigmented hepatic hepatosis. Often the clinical symptoms of pathologists occur in patients aged 12 to 30 years. In children in the prepubertal period, the manifestation of the symptoms of the disease is due to the fact that an increased content of hormones in the blood inhibits the process of utilization of bilirubin.
Gilbert's syndrome is more often diagnosed in the male part of the population than in the female.
What happens in the body?
Bilirubin (see causes of elevated bilirubin) is a substance that forms during the breakdown of hemoglobin. The period of the erythrocyte is 120 days, after which it breaks down into 2 components:
- Heme is a non-protein compound containing iron. It is in the process of its disintegration that the formation of indirect bilirubin occurs.
- Globin is a protein compound. Disintegrating into components, it is completely absorbed into the blood.
Bilirubin is in some way a toxic substance to the brain. That is why the body is trying to neutralize this element as soon as possible, and the liver is primarily responsible for this process. Or rather, albumin, which is produced by its cells. This is a specific protein compound that binds and transports bilirubin to the liver cells.
In the liver tissues, the enzyme UDPP-glucuronyl transferase is produced, which, by attaching glucuronate to bilirubin, partially neutralizes it. After that, the substance is excreted in the urine and feces.
The following disorders are characteristic of Gilbert's syndrome:
- the penetration of indirect bilirubin in liver cells;
- delivery of the substance to those cells where the enzyme UDP-glucuronyl transferase is present;
- binding of bilirubin to glucuronate.
The bilirubin accumulated in the body easily penetrates into the mitochondria, thereby disrupting important processes: access of oxygen to the tissues, oxidative phosphorylation, protein synthesis, etc. If the indicators of indirect bilirubin are 60 µmol / l of blood (for comparison: 1.70 to 8.51 μmol / l), this suggests that the mitochondria of peripheral tissues are affected. At higher enzyme levels, it becomes possible for fat-soluble structures to penetrate the brain. And this is fraught with serious violations of vital processes in the body.
It is extremely dangerous to damage the brain centers responsible for the respiratory and cardiovascular systems. For Gilbert's syndrome, such a lesion is not typical, but it becomes quite real in case of a viral, alcoholic, narcotic, or drug-induced lesion of the body.
Causes of development
This syndrome is a genetically determined abnormality that is transmitted through the maternal or paternal line. It is characterized by the occurrence of a defect in the second chromosome, resulting in a failure in the process of producing an enzyme that converts indirect bilirubin into a bound fraction. People with this pathology of this enzyme are 80% less, and the present 20% simply do not have time to cope with the process of binding bilirubin.
The intensity of the manifestation of the syndrome may be different for each patient. In the location of the damaged chromosome with such a deviation there is always an insert of 2 amino acids, but the fact is that there may be more such inserts than a pair. And the higher their number, the brighter and more intense the syndrome manifests itself.
Hepatic enzyme synthesis is to some extent regulated by the male sex hormone androgen. For this reason, the symptoms of the syndrome appear, usually in puberty. Precisely because the enzyme is affected by androgen, the disease in question is more often diagnosed in men.
Gilbert's syndrome never manifests on its own. To activate the pathological process, it is necessary to influence certain factors, among which in the first place are:
- the use of strong alcoholic beverages in large quantities;
- frequent use of streptomycin, aspirin, paracetamol, and some other medications;
- recent surgery;
- exposure to stress;
- overwork - systematic or frequent;
- lack of sleep;
- neurological diseases;
- receiving GCS;
- fatty food abuse;
- the duration of taking anabolic steroids;
- excessive or too intense exercise;
- fasting, including therapeutic.
Note. The above factors can both provoke the development of the syndrome and aggravate its course.
Symptoms and first signs
In general, the well-being of patients with this deviation is characterized as satisfactory. But from time to time, the disease may be felt under the influence of previously considered provoking factors. In this case, it appears:
- jaundice syndrome;
- weakness, fatigue, even after doing a little physical exertion;
- problems with sleep and falling asleep;
- the formation of yellow plaques on the skin of the eyelids.
With a significant increase in the concentration of bilirubin, the whole body may turn yellow, or its individual parts - face, palms, feet, armpits, etc. But with a reduced enzyme index, yellowing is observed in the eye proteins.
Atypical, non-specific symptoms are also characteristic of Gilbert syndrome. These are ailments, which may either appear or be absent. These include:
- feeling of heaviness in the right hypochondrium;
- increased sweating;
- abdominal discomfort;
- recurrent bouts of cephalgia or dizziness;
- apathetic condition, lethargy, fatigue, fatigue;
- unreasonable irritability, aggressiveness, nervousness;
- belching with an unpleasant odor;
- bitterness in the mouth;
- flatulence and bloating;
- intense itching on the body;
- diarrhea, alternating constipation, or vice versa.
Gilbert's syndrome has one feature that helps differentiate it from many other diseases. So, patients have an increase in liver size, and its protrusion beyond the costal arch. However, the structure of the body is not disturbed, and during palpation a person does not complain of pain or discomfort.
In some patients there is an increase in the spleen, entailing a dysfunction of the biliary system. Often, this background is the development of cholecystitis.
In 30% of cases, Gilbert's syndrome is absolutely asymptomatic. That is why it can go unnoticed for a long time and be diagnosed completely by chance.
During the physical examination, yellowing of the skin and mucous membranes is noted. On palpation, an enlargement of the liver or spleen is recorded. Based on the data obtained during the initial examination, the doctor decides on the further conduct of:
- General clinical and biochemical blood tests. These procedures are necessary to determine the level of bilirubin, hemoglobin and iron. With indicators of bilirubin above 60 µmol / l, they say about hyperbilirubinemia.
- Urine tests. Detection of bilirubin in the urine, as well as the acquisition of a shade of dark beer by it, are obvious signs of secondary hepatitis. The electrolyte balance of biological fluid is not disturbed.
- Copular programs of feces for the presence of sterkobilina.
- Rimfacinovoy samples. When a patient receives a certain antibiotic at a dose of 900 mg, an increase in the concentration of indirect bilirubin occurs.
An important role is played by instrumental diagnostic methods:
- Ultrasound of the abdominal organs and biliary tract;
- radioisotope study of the parenchyma.
In addition, conduct:
- Trial with Phenobarbital. In Gilbert's syndrome, there is a drop in the amount of bile pigment.
- Sample with nicotinic acid. With its in / in the introduction of the level of ZH rises in 2 - 3 hours.
- The test on a zhp by means of a low-calorie diet. At its observance the indicators increase by 50 - 100% in comparison with the norm.
To confirm the diagnosis, along with the procedures described above, the contents of the duodenum are collected.
In case of chronic hepatitis or suspected cirrhosis, a liver puncture is performed followed by biopsy sampling. The obtained sample of liver tissue is subsequently subjected to histological examination.
One of the most informative diagnostic methods for this syndrome is considered genetic analysis. The propensity for this disease is determined by studying the gene UDHT. The diagnosis is confirmed when the indicators of TA repeats in the damaged DNA region are 7 or higher than this figure.
Before the start of therapy, a blood test is required.
How to treat Gilbert's syndrome
The purpose of specific therapeutic measures directly depends on the bilirubin values in the biochemical blood analysis.
Up to 60 µmol / l
If, with such indicators of bilirubin, the patient is not disturbed by any ailments, and the yellowness of the skin and mucous membranes is absent, then medical therapy is not carried out. But in order to prevent the development of such ailments, doctors may prescribe:
- sorbents - activated or white coal, Polysorb, Sorbex, etc .;
- phototherapy sessions, during which light acts on the skin, resulting in the excretion of excess bilirubin from the body;
- diet therapy with the exception of fatty foods, alcohol and so-called "provoking" products.
Above 80 µmol / L
With such indicators bilirubin shows the use of Phenobarbital at a dose of 50 - 200 mg per day. The duration of therapy is 2 - 3 weeks.
Since the medication has a hypnotic effect, during the entire period of treatment the patient receives a hospital. Other drugs may be prescribed instead of Phenobarbital, for example, Barboval or Valocordin. They contain less phenobarbital, so their hypnotic effect is less pronounced. When taking such drugs allowed to drive a car and visit the work.
When bilirubin is above 80 µmol / l, a diet based on the use of:
- fermented milk products;
- lean fish;
- lean meats;
- non-acidic juices;
- galetny cookies;
- different types of vegetables and fruits;
- sweet tea;
Parallel to this, full exclusion from the menu is required:
- any baking;
- spicy, fatty, fried foods;
- smoked meat;
- pickled products;
Patients with this syndrome can be assigned to different types of diets: diet table number 5, medical table number 8, treatment table number 9.
If in the previously described situations the treatment can be performed on an outpatient basis, then with an excessively high bilirubin rate, the patient is necessarily hospitalized. Further therapy is based on:
- intravenous administration of polyionic solutions;
- taking sorbents;
- the use of drugs based on lactulose - Duphalac, Normase, Normolakta, etc .;
- use of hepatoprotectors of the latest generation;
- blood transfusions;
- albumin administration.
At the same time, the diet of the patient with Gilbert's syndrome is subject to radical changes. Meat, eggs, fish, offal, cottage cheese, all kinds of fats, and even fruits, vegetables and berries are completely excluded from the patient’s daily menu. It is allowed to use only soups without zazharki, bananas, dairy products with a low percentage of fat, baked apples and galetny cookies.
During the remission phase, it is important to ensure the normal functioning of the bile ducts. To do this, you must regularly take hepatoprotectors - Allohol, Urokholum, Gepabene etc.
Blind sounding should be done once every 14 days. Its essence is as follows. An empty stomach is taken xylitol, sorbitol or Carlsbad salt. After that, the patient lies on his right side and warms up the gallbladder area with a heater or other warm object. The procedure must be continued for 30 minutes.
If Gilbert's syndrome is in the phase of persistent remission, then it is not necessary to follow a strict diet during this period. The main thing - to exclude from the diet foods that can provoke an exacerbation of pathology. Each person can have a different list, so the patient should understand for himself what is better for him to abstain. If necessary, he can make a list of prohibited products with his doctor.
The diet should be enriched, above all, with products of plant origin. Occasionally, and only in minimal quantities allowed the use of fast food, sweets, carbonated drinks. Again, if they are not provocateurs for an exacerbation of the syndrome. But alcohol is better to give up.
It is important to remember that an unbalanced diet can contribute to a reduction in bilirubin, but at the same time, hemoglobin and iron levels will decrease. And anemia is already fraught with other health effects.
Prediction for life
Gilbert's syndrome is characterized by a favorable course, and does not lead to an increase in the mortality rate, even with consistently high bilirubin levels. As the body ages, the liver functions abnormally, and inflammatory processes in its tissues and bile ducts develop. The development of gallstone disease is possible, which significantly aggravates the patient’s state of health, but this is not the reason for his disability.
When planning a pregnancy for a married couple, in which one of the partners suffers from Gilbert's syndrome, it is necessary to consult with a geneticist doctor. This same specialist should be consulted if such a couple already has a child.
If Gilbert's syndrome is combined with other conditions involving a violation of bilirubin utilization (for example, Dubin-Johnson or Crigler-Nayar syndrome), then the patient’s prognosis worsens dramatically. A patient with such abnormalities can tolerate hepatic diseases, especially hepatitis.
Gilbert's syndrome, or non-hemolytic familial jaundice, is a genetically determined disease, so there are no methods for preventing its development.The only advice for patients with this disorder is to avoid factors that provoke an aggravation of the pathological process.
An important role is played by regular supervision by a specialist.