Gilbert's syndrome: symptoms and treatment. What is Gilbert's syndrome: a disease or an individual feature

In a broad sense, Gilbert's syndrome is a hereditary disease, accompanied by an increase in the human blood of a substance called "bilirubin".

In medicine, this disease is often referred to as constitutional hepatic dysfunction or non-hemolytic familial jaundice. Gilbert's syndrome does not apply to diseases of an acquired nature; patients are born with this deviation.

What it is

Bilirubin is a substance that is a product of the processing of old red blood cells and hemoglobin. In the normal state, such components are excreted from the body with the stool.

If this process is violated, they remain in the human blood. The result of this condition is yellowing of the white membranes of the eyes, some areas of the skin and a change in the composition of bile.

An important component of the process of bilirubin metabolism in the human body is an enzyme called glucuronyl transferase. With Gilbert's syndrome, there is a shortage of this element. Bilirubin does not leave the body, but accumulates in the blood, causing the skin to turn yellow.

Brief medical history

For the first time, a syndrome associated with a genetic disorder in the utilization of bilirubin was described by the French gastroenterologist Augustin Nicolas Gilbert, who was considered one of the brightest representatives of the therapeutic school who studied liver and blood pathologies.

The disease received the name of its discoverer, but in medical sources it is also referred to as benign familial jaundice or constitutional dysfunction of the liver.

Gilbert, through numerous studies, not only revealed the hereditary nature of the presence of deviations in the level of bilirubin in the blood plasma, but also proved that in the presence of such a factor, there is no impairment of the liver or biliary tract. The discovery of a specialist was recorded in 1901.

Prevalence and Significance

According to the National Institutes of Health, almost 10% of the world's population is carriers of Gilbert's syndrome. The identification of this disease and the compilation of accurate statistics are complicated by a small number of symptoms characteristic of the disease.

Patients, as a rule, turn to doctors with complaints of yellowness of the sclera of the eyes or certain areas of the skin.

Before the appearance of such signs, it is possible to diagnose Gilbert's syndrome only by studying blood tests for the amount of bilirubin.

Risk factors

Patients at risk for Gilbert's syndrome among whose relatives there are people with established diagnoses of this disease. A congenital abnormality in the level of bilirubin in the blood is transmitted only at the genetic level. If one of the parents has such a disease, then the risk of transmitting it to the child is 50%. The main symptoms begin to appear in men after 30 years.

The reasons

Each person has two copies of a gene that directly affects the occurrence of Gilbert's syndrome. Having one wrong gene is one of the most common situations.

In people with such a factor throughout life, the level of bilirubin may change periodically, but yellowness of the sclera of the eyes or skin will not be observed.

Two wrong genes guarantee that a patient has Gilbert's syndrome.

The causes of Gilbert's syndrome include the following factors:

the presence of a mutation in the gene involved in the production of bilirubin;
complication of the initial state of the organism (a patient with Gilbin's syndrome) by additional factors in the form of severe starvation, stress, abuse of bad habits or past viral diseases.

Symptoms and methods of diagnosis

For a long time, Gilbert's syndrome can develop asymptomatically. The signs of this disease are exacerbated under the influence of some external factors, which include sudden physical exertion, constant stressful situations, a course of treatment with strong medications, or previous viral diseases. Alcohol or sudden changes in diet can also provoke the symptoms of Gilbert's syndrome.

Symptoms of Gilbert's syndrome include the following factors:

yellowness of the skin in the area of the nasolabial triangle, feet, palms or axillary areas;
the appearance of a yellow tint of the sclera of the eyes (white membranes);
general sluggish state (increased fatigue, lack of appetite, drowsiness);
heartburn, belching and bitterness in the mouth;
discomfort in the liver.

With an exacerbation of Gilbert's syndrome, symptoms resembling alcohol intoxication occur, but they are extremely rare. These signs include difficulty in finding words and pronouncing them, a change in gait, muscle twitching, uncontrollable vomiting or dizziness.

Diagnosis of Gilbert's syndrome is based on the study of the level of bilirubin in the patient's blood and genetic predispositions. In most cases, the disease is inherited.

The development of Gilbert's syndrome is always accompanied by an increase in the level of bilirubin, a decrease in hemoglobin and a large number of immature erythrocytes. Changes in urine tests are observed only in the presence of hepatitis.

To confirm the diagnosis, additional studies are carried out:

tomography of the liver;
phenobarbital test;
the body's response to starvation.

Treatment

Gilbert's syndrome is not a life-threatening disease.. Even the symptoms of the disease proceed with minimal discomfort, and sometimes go unnoticed for a long time. Psychological excitement to patients delivers yellowness of the skin.

drugs

With an exacerbation of Gilbert's syndrome, it is recommended to take the drug "Phenobarbital". Dosage and course of treatment is established by a specialist based on the existing clinical picture.

Prolonged use of this medication or its uncontrolled intake can adversely affect the functioning of the liver and the state of the nervous system. In addition, the tool has a toxic effect on the body.

Favorably, the drug affects the composition of bile. The prophylactic course of its reception lasts several weeks. The use of "Ursosan" in the treatment of Gilbert's syndrome must be agreed with the attending physician.

The course of treatment of Gilbert's syndrome can be supplemented with drugs of the following groups:

choleretic agents;
barbiturates;
hepatoprotectors;
enterosorbents;
diuretics;
vitamin B;
drugs to improve digestion.

Treatment with folk remedies

The process of treating Gilbert's syndrome is recommended to be supplemented with a special diet. With food, the patient should receive the maximum amount of vitamins and useful components. Preservatives and harmful foods are completely excluded from the diet. Food should only be prepared by boiling or roasting.

Infusions from the following types of herbs help to normalize the level of bilirubin:

calendula;
immortelle;
tansy;
chicory;
barberry;
rose hip;

These ingredients can be brewed in the traditional way.- one teaspoon of the mixture per cup of boiling water. Decoctions are prepared by infusion or short boiling. It is recommended to take folk remedies in courses of several weeks. A day, the decoction should be consumed at least three times a day, one glass.

Prevention

It is impossible to acquire Gilbert's syndrome during life, the disease is transmitted at the genetic level. It is possible to reveal the fact of the presence of such a disease only on the basis of appropriate blood tests. There are no preventive measures to prevent such a deviation.

For patients at risk, experts recommend that you carefully consider your health and exclude factors that can lead to an exacerbation of the symptoms of Gilbert's syndrome.

Video on the topic: Gilbert's disease

These preventive measures include:

giving up bad habits (alcohol, smoking, etc.);
compliance with the rules of healthy eating;
moderate physical activity;
compliance with instructions for the use of drugs, the side effects of which include a negative effect on the liver;
annual clinical examination (full medical examination).

Forecast

Gilbert's syndrome does not affect the life expectancy of patients. However, it is difficult to call the disease completely safe. The fact is that complications of the disease can lead to some changes in the working capacity of the liver and increase its sensitivity to alcohol, unhealthy foods or other negative factors.

As a result of such a process, another type of jaundice may occur, up to hepatitis. When establishing the diagnosis of Gilbert's syndrome, it is important to control the level of liver enzymes and prevent health complications.

Gilbert's syndrome (GS) is a hereditary pigmentary hepatosis in which the liver cannot fully process a compound called bilirubin. In this condition, it accumulates in the bloodstream, causing hyperbilirubinemia.

In many cases, high bilirubin is a sign that something is going on with liver function. However, with SF, the liver usually remains normal.

This is not a dangerous condition and does not need to be treated, although it can cause some minor problems.

Gilbert's disease affects men more often than women. The diagnosis is usually made in the late teens or early twenties. If people with SF have episodes of hyperbilirubinemia, they are usually mild and occur when the body is under stress, such as from dehydration, long periods without food (fasting), illness, vigorous exercise, or menstruation. However, about 30% of people with the syndrome have no signs or symptoms of the condition and are only diagnosed with the disorder when routine blood tests show elevated levels of indirect bilirubin.

Other names for Gilbert's syndrome:

constitutional dysfunction of the liver;
familial non-hemolytic jaundice;
Gilbert's disease;
unconjugated benign bilirubinemia.

Disorders in the UGT1A1 gene lead to Gilbert's syndrome. This gene gives instructions for making the enzyme glucuronosyltransferase, found mainly in liver cells, which is needed to remove bilirubin from the body.

Bilirubin is a normal by-product formed after the breakdown of old red blood cells that contain hemoglobin, the protein that carries oxygen in the blood.

Typically, red blood cells live for about 120 days. When this period expires, hemoglobin is broken down into heme and globin. Globin is a protein stored in the body for later use. Heme must be removed from the body.

The removal of heme is called glucuronidation. Heme is broken down into an orange-yellow pigment, "indirect" or unconjugated bilirubin. This indirect bilirubin goes to the liver. It dissolves in fat.

Bilirubin in the liver is processed by an enzyme called urodine diphosphate glucuronosyltransferase and converted to a water-soluble form. This is "conjugated" bilirubin.

Conjugated bilirubin is secreted into bile, this body fluid aids in digestion. It is stored in the gallbladder, from where it is released into the small intestine. In the intestines, bilirubin is converted by bacteria into pigment substances - stercobilin. It is then excreted in faeces and urine.

People with SF have approximately 30 percent of the normal function of the glucuronosyltransferase enzyme. As a result, unconjugated bilirubin is not sufficiently glucuronated. This toxic substance then accumulates in the body, causing mild hyperbilirubinemia.

Not all individuals with the genetic changes that cause Gilbert's syndrome develop hyperbilirubinemia. This indicates that additional factors may be required for the condition to develop, such as conditions that make the glucuronidation process even more difficult. For example, red blood cells can break down too easily, releasing too much bilirubin, and the broken enzyme can't do its job. Conversely, the movement of bilirubin to the liver, where it would be glucuronated, may be impaired. These factors are associated with changes in other genes.

Other than inheriting the damaged gene, there are no risk factors for developing GS. The disorder is not associated with lifestyle, habits, environmental conditions, or serious underlying liver pathologies such as cirrhosis, hepatitis B, or hepatitis C.

Gilbert's syndrome is an autosomal recessive disorder.

Each person has two sets of genes that are passed down from the father and from the mother. Due to this duplication, genetic disorders appear when two broken genes are inherited (homozygous variant).

Much more often, in a pair of inherited genes, only one is abnormal (heterozygous variant). In this case, the following scenarios exist:

Dominant type of inheritance - the damaged gene dominates over the normal one. The disease occurs even when only one gene of the pair is abnormal.

Recessive type of inheritance - a healthy gene successfully compensates for the inferiority of a defective gene and suppresses (recesses) its activity. Gilbert's disease follows just such a mechanism of inheritance. Only with the homozygous variant does a syndrome occur when two genes are defective. But the risk of developing this variant is quite high, since the heterozygous gene for Gilbert's syndrome is very common among the population. These people are carriers of the defective gene, but the disease does not manifest itself (although a slight increase in indirect bilirubin is possible).

The autosomal mechanism means that the disease is not associated with sex.

Thus, autosomal recessive inheritance suggests the following:

parents of affected persons are not necessarily ill with this disease themselves;
in patients with the syndrome, healthy children can be born (more often it happens).

More recently, Gilbert's disease was considered an autosomal dominant disorder (the disease occurs when only one gene in a pair is damaged). Modern research has refuted this view. Scientists also found that almost half of people have an abnormal gene. The risk of getting Gilbert's disease from parents with a dominant type would increase significantly.

Symptoms of Gilbert's syndrome

Most people with GS have short episodes of jaundice(yellowing of the whites of the eyes and skin) due to the accumulation of bilirubin in the blood.

Because the disease usually results in only a slight increase in bilirubin, the yellowing is often mild (subicteric). Most often the eyes are affected.

Some people also have other problems with episodes of jaundice:

feeling tired;
dizziness;
abdominal pain;
loss of appetite;
irritable bowel syndrome - a common digestive pathology, leading to stomach cramps, bloating, and;
trouble concentrating and thinking clearly (brain fog);
poor health in general.

In some patients, the disease is characterized by symptoms associated with the emotional sphere:

feeling of fear for no reason and panic attacks;
depressed mood, sometimes turning into a long depression;
irritability;
there is a tendency to engage in antisocial behavior.

These symptoms are not always caused by an increase. Often, the self-hypnosis factor affects the patient's condition.

It is not so much the manifestation of the disorder that injures the patient's psyche, but the continuous hospital surroundings that began from youth. Regular tests for many years, trips to clinics lead to the fact that some unjustifiably consider themselves seriously ill and handicapped, while others are forced to defiantly ignore their illness.

These problems, however, are not necessarily considered to be directly associated with an increase in bilirubin, but may indicate a disease other than GS.

About a third of people with this disorder have no symptoms at all. Thus, the parents may not realize that the child has the syndrome until studies are done for an unrelated problem.

The diagnosis takes into account the hereditary nature of the disease, the onset of manifestation in, the chronic nature of the course with short exacerbations and a slight increase in the amount of indirect bilirubin.

Types of studies to rule out other diseases with similar features.

Study Type	Results with GS	Outcomes in other diseases
General blood analysis	The presence of immature erythrocytes (reticulocytosis), hemoglobin is reduced	with hemolytic jaundice, reticulocytes and low hemoglobin may appear
General urine analysis	No change	Urobilinogen and bilirubin indicate the presence of hepatitis
Biochemical blood test	Glucose level is normal or reduced, albumins, ALT, AST, gamma-glutamyl transpeptidase (GGTP) are within normal limits, thymol test is negative, indirect bilirubin is increased, direct remains normal, or increases slightly	Low albumin is characteristic of diseases of the liver and kidneys; with hepatitis, a high level of ALT, AST and a positive thymol test; alkaline phosphatase increases sharply with a mechanical obstruction to the outflow of bile
Blood clotting testing	Thrombosed index and prothrombized time are normal	Changes indicate chronic liver disease
Autoimmune liver tests	No autoantibodies	Hepatic autoantibodies are detected in autoimmune hepatitis
ultrasound	There are no changes in the structure of the liver. During an exacerbation, a slight increase in the organ is possible	An enlarged spleen may indicate other liver diseases.

Performing all of the above studies will exclude other pathologies, and thereby confirm Gilbert's syndrome.

Currently, there are two methods that can confirm the diagnosis of Gilbert's syndrome with 100% probability:

molecular genetic analysis- using PCR, an abnormality of DNA is detected, which is responsible for the onset of the disease;
needle biopsy of the liver- a small piece of the liver is taken for analysis with a special needle, then the material is examined under a microscope. This procedure is performed to rule out cancer, cirrhosis, or hepatitis.

Treatment of Gilbert's syndrome - is it possible?

As a rule, GS does not require medical treatment. To stop the exacerbation, it will be sufficient to eliminate the factors that caused it. After that, the amount of bilirubin usually decreases rapidly.

It is necessary to take into account the limited capacity of the liver.

However, some patients require the use of drugs. They are not always prescribed by a specialist, often patients choose their own effective medicines for themselves:

Among people with the syndrome, it is most popular. The drug of sedative action, even in a small dosage, effectively reduces the amount of indirect bilirubin. However, this is not the most ideal option for the following reasons: the drug is addictive; after stopping the intake, the effect of the drug stops, long-term use leads to complications from the liver; a slight sedative effect interferes with activities that require increased concentration.
Flumecinol. The drug selectively activates microsomal liver enzymes, including glucuronyl transferase. Unlike phenobarbital, the effect on the amount of bilirubin in flumecinol is less pronounced, but the effect is more persistent, lasting 20-25 days after stopping the intake. In addition to allergies, no adverse reactions are observed.
Peristalsis stimulants (domperidone, metoclopramide). The drugs are used as antiemetics. By stimulating the motility of the gastrointestinal tract and bile secretion, the medicine well eliminates unpleasant digestive disorders.
digestive enzymes. Medications significantly alleviate gastrointestinal symptoms during exacerbations.

Healthy nutrition plays a key role in SS.

Meals should be regular and frequent, not in large portions, without long breaks and at least 4 times a day.

This diet has a stimulating effect on gastric motility and favors the rapid transport of food from the stomach to the intestines, and this has a positive effect on the biliary process and on the functioning of the liver as a whole.

The diet for the syndrome should include a sufficient amount of protein, less sweets, carbohydrates, more fruits and vegetables. Recommended cauliflower and Brussels sprouts, beets, spinach, broccoli, grapefruit, apples. It is necessary to eat cereals rich in fiber (buckwheat, oatmeal, etc.), and it is better to limit the consumption of potatoes. To satisfy the need for high-grade proteins, mild fish dishes, seafood, eggs, and dairy products are suitable. Meat is not recommended to be completely excluded from the diet. Coffee is better to change to tea.

There is no strict restriction regarding any specific products. You are allowed to eat everything, but in moderation.

A strict vegetarian diet is unacceptable, as it will not provide the liver with essential amino acids that cannot be replaced. A large amount of soy also negatively affects the body.

Conclusion

Gilbert's syndrome is a lifelong disease. However, the pathology does not require treatment, as it does not pose a threat to health and does not lead to complications or an increased risk of liver disease.

Episodes of jaundice and any associated manifestations are usually short-lived and eventually resolve.

With this disease, there is no reason to change the diet or the amount of physical activity, but recommendations for a healthy balanced diet and physical activity guidelines should be applied.

Gilbert's syndrome was first described in 1901. Today, this is not such a rare occurrence, since about 10% of the inhabitants of the entire planet suffer from it. The syndrome is inherited and most common on the African continent, but also occurs in residents of European countries and people living in Southeast Asia. Consider how the syndrome develops, why it is dangerous, and how to treat it.

Bilirubin is a substance that is a product of the processing of red cells and hemoglobin. With Gilbert's syndrome, an increased content of it is observed in the blood due to a decrease in the activity of the production of the enzyme glucuronyl transferase. This disease does not provoke any particular severe changes in the structure of the liver, but it can lead to serious consequences in the form of stones in the gallbladder.

By origin, Gilbert's syndrome is:

congenital (manifested without prior hepatitis);
manifesting (characterized by the presence of the above pathology in the medical history).

To determine the form of the syndrome that is observed in a particular case, the patient is sent for genetic analysis. There are 2 forms of the disease:

homozygous (UGT1A1 TA7/TA7);
heterozygous (UGT1A1 TA6/TA7).

The syndrome proceeds with the manifestation of such clinical signs:

signs	Description
Jaundice	There is a yellow staining of the skin and mucous membranes, but the color of feces and urine does not change, as is the case with hepatitis (viral and alcoholic). Most often, this symptom in the syndrome manifests itself in the presence of an excessive load on the liver associated with malnutrition, the use of certain drugs, exposure to alcohol, etc.
Dyspeptic manifestations	With the syndrome, they occur extremely rarely and are accompanied by symptoms such as nausea, vomiting, flatulence, constipation, alternating with diarrhea, etc., since when this pathology appears, not only the functioning of the liver, but also other organs of the gastrointestinal tract is disturbed.
Asthenovegetative syndrome	Appears with hepatocellular insufficiency, in the form of symptoms such as fatigue, restless sleep, weakness, sudden weight loss. Also, over time, there is a slow reaction rate and memory impairment.
Hidden appearance (lack of external signs or their weak severity)	Gilbert's syndrome is inherited (from both father and mother) and may also occur under the influence of the following factors: infectious and viral diseases; received injuries; menstruation; malnutrition (including fasting); insolation; disturbed sleep pattern; dehydration; stress and depression; taking certain medications; the use of various kinds of alcoholic beverages (even low-alcohol ones); surgical intervention.

All of the above factors can not only provoke the manifestation of the syndrome, but also aggravate the severity of the pathology already present in a person. The syndrome may be active or less pronounced, depending on the action of these factors.

Diagnosis and clinical manifestations

Diagnosis of Gilbert's syndrome begins with the collection of anamnesis and clarification of the following questions:

When did the symptoms (pain, changes in the skin and other characteristic manifestations) appear?
Did any factors influence the occurrence of this condition (did the patient abuse alcohol, were there surgical interventions, did he have any infectious diseases in the near future, etc.)?
Were there people in the family with a similar diagnosis or other liver pathologies?

Further, in the diagnosis of the syndrome, a visual examination is performed. The doctor pays attention to the presence (absence) of jaundice, pain that occurs when probing the abdomen, and other symptoms. Laboratory and instrumental methods of examination are also mandatory for the diagnosis of the syndrome.

Symptoms

Signs of the syndrome are divided into 2 groups - mandatory and conditional. If you experience all of the above symptoms, you should immediately contact your doctor. Mandatory signs of Gilbert's syndrome are manifested as follows:

discoloration of the skin (yellowing) and mucous membranes;
deterioration of the general condition (weakness, increased fatigue) without obvious reasons;
the formation of xanthelasma in the eyelids;
sleep disturbance (he becomes restless, intermittent);
loss of appetite.

Conditional manifestations of the syndrome are possible in the form of:

sensations of heaviness in the hypochondrium (right) and its occurrence does not depend on food intake;
migraines and vertigo;
a sharp change in mood, irritability (impaired psycho-emotional state);
pain in the muscles;
itching;
tremor (which occurs from time to time);
hyperhidrosis;
flatulence and nausea;
stool disorders (the patient has diarrhea).

Laboratory research

To confirm the syndrome, special tests are carried out:

Appointment of a test with starvation. There is a significant increase in bilirubin after a two-day fast.
The use of samples with nicotinic acid. With the on / in the introduction of this acid, there is a decrease in the osmotic stability of erythrocytes and an increase in the level of bilirubin.
Appointment of a sample with Phenobarbital. The use of a drug in the diagnosis of the syndrome is necessary due to an increase in the activity of a certain enzyme (glucuronyl transferase) that promotes the binding of indirect bilirubin and its decrease.
Application of the method of molecular DNA research. This is a method to help determine the mutation of the UGT1A1 gene, namely its promoter region.

To make a diagnosis of Gilbert's syndrome, it is important to conduct laboratory tests:

UAC. In the presence of the syndrome, an increase in the level of hemoglobin, an increase in the content of reticulocytes is possible.
Biochemical analysis of blood (there is an increased level of bilirubin, an increase in the level of liver enzymes and an increased level of alkaline phosphatase).
Coagulogram. With the syndrome, coagulability is normal or there is a slight decrease in it.
Molecular diagnostics (DNA analysis of a gene that affects the manifestations of the disease is performed).
Blood test for the presence (absence) of viral hepatitis.
PCR. Thanks to the results obtained, it is possible to assess the risk of developing the syndrome. UGT1A1 (TA)6/(TA)6 is an indicator indicating the absence of violations. With this result: UGT1A1 (TA)6 / (TA)7, you should know that there is a risk of developing pathology. UGT1A1 (TA)7/(TA)7 indicates a high risk of developing the syndrome.
Urine analysis (its color and other indicators are assessed).
Analysis of feces for stercobilin. With this diagnosis, it must be negative.

Instrumental Methods

Also, in the diagnosis of the syndrome, some instrumental and other methods are used:

Approaches to therapy

refusal to eat harmful (excessively fatty) food;
limitation of loads (associated with labor activity);
exclusion of alcohol;
prescribing and taking drugs that improve the condition and functioning of the liver, as well as promote the outflow of bile;
appointment of vitamin therapy (vitamins of group B are especially useful in this case).

Medical impact

When symptoms of the syndrome occur, a number of such drugs are prescribed:

barbiturates (often prescribed for sleep disorders, anxiety and convulsions and some other symptoms that accompany this pathological condition);
choleretic agents (lead to increased secretion of bile and its release into the duodenum);
hepatoprotectors (drugs designed to protect the liver from the negative effects of various factors);
drugs that help prevent the development of gallstone disease and cholecystitis;
enterosorbents (substances that, when they enter the stomach and intestines, begin to absorb poisons and toxins, and then remove them naturally).

In dyspeptic disorders, various drugs are used, including digestive enzymes. Also, if jaundice occurs, phototherapy is prescribed. For this, quartz lamps are used to help break down bilirubin deposited in the skin.

home methods

Alternative methods of treatment can also be used in this case. But do not forget that all therapeutic actions must be agreed with the attending physician. The following herbs help to normalize the level of bilirubin:

Health food

Proper nutrition is the basis of the treatment of the syndrome, since the patient must necessarily reduce the load on the liver.

Approved Products

Prohibited Products

compotes, juices, weak coffee and tea;
cookies (only lean), dried bread made from rye or wheat flour;
cottage cheese, cheeses, powdered, condensed or whole milk (low-fat);
various first courses (mainly soups);
oil in small quantities (both vegetable and butter);
lean meats and milk sausages;
lean fish;
cereals (light);
vegetables (preferably homegrown);
eggs;
berries and fruits (non-acidic);
sweets in the form of honey, jam, sugar.

bread (freshly baked), rich pastries;
lard and various cooking oils (especially margarine);
soups with fish, mushrooms and meat;
meat and fish of fatty varieties;
the following vegetables and dishes cooked with them: radish, radish, sorrel, spinach;
eggs (fried or hard boiled);
spicy seasonings such as pepper and mustard;
canned fish and vegetables, smoked meats;
strong coffee, cocoa;
sweets such as: chocolate, various creams and ice cream;
berries and fruits (sour);
alcohol.

Treatment in pregnant women and children

Treatment of children with the syndrome should be carried out with caution and the methods should be as safe as possible, so they are prescribed:

medicines that help reduce the level of indirect bilirubin: Hepel, Essentiale;
treatment with enzymes and sorbents (these groups of drugs improve liver function): Enterosgel, Enzyme;
taking choleretic drugs (eliminate bilirubin): Ursofalk;
intake of vitamins and minerals (strengthen the body's defenses).

Tatyana: “When I was lying with my newborn daughter in the hospital, we decided to check the child for the presence of Gilbert's syndrome, since my family had such problems. I had to wean my daughter from the breast for several days (they were on the mixture). Bilirubin began to fall, which is also an indicator.

They sent the blood to the genetic center for testing, and the answer came “indistinct” (they could neither confirm nor deny the presence of the syndrome in my daughter) and offered to take tests for other positions in order to confirm the diagnosis by elimination. But we didn't. I know my heritage. In any case, the most dangerous syndrome is for newborns, because their body is weak.

The occurrence of this syndrome during pregnancy is an extremely rare occurrence. If one of the relatives of a woman or her husband suffered from it, she must definitely inform her gynecologist about this. Treatment of Gilbert's syndrome in pregnant women is standard: the use of choleretic drugs, hepatoprotectors and vitamins.

Anna: “My sister got this syndrome from my dad (he had jaundice in his youth). Tanya found out about this disease by chance only when she started taking tests during pregnancy (her bilirubin was elevated). In principle, there is nothing particularly terrible in the syndrome, except for external manifestations (dad has yellow pupils, but this is almost not noticeable). I didn't get this syndrome. So it’s not a fact that even with such heredity, the disease will manifest itself.

Irina: “My friend has been diagnosed with Gilbert's syndrome since birth. All his life he drinks Karsil. Now his girlfriend is pregnant and she is afraid that the child will also get this disease. Although she understands that this is not fatal, she does not want the baby to take pills all his life just like her husband. Doctors say that you should not worry - the main thing is to periodically drink hepatoprotectors.

How to live with pathology?

In the presence of Gilbert's syndrome, people can in most cases live a normal life, with few restrictions, play sports, give birth to children, and perform military service. The last point is worth a closer look.

In the process of filling out an act for a military registration and enlistment office with a syndrome, category B is given (valid, but with minor restrictions). Young people with this diagnosis are advised to avoid heavy physical exertion, stress and starvation.

If the health condition of a soldier worsens, he can be placed in a military hospital or even discharged from the army. If the patient has other comorbidities along with the syndrome, a young person with such a diagnosis may be given a deferment or category B (meaning that he is fit only in wartime).

To support the organ, each patient with Gilbert's syndrome should follow these recommendations:

You should also remember that:

The development of the syndrome is difficult to prevent, as it is a hereditary disease.
Reduction or complete elimination of the influence of toxic factors on the liver is required.
It is important to avoid the use of alcoholic beverages.
It is necessary to give up bad habits and take anabolic steroids.
It is very important to have an annual check-up to detect and/or treat liver disease.

Gilbert's syndrome is not a very dangerous pathology, which, however, without the necessary treatment, can provoke severe complications and consequences in the form of chronic hepatitis and gallstone disease. Also, in the presence of external manifestations, a person feels a certain discomfort while being in society. It is difficult to prevent the development of the syndrome, since the hereditary factor plays the main role, but it is still possible if you follow the basic recommendations of specialists.

A condition when a person himself or his relatives notice a yellow coloration of the skin or eyes (often this happens after a feast with the use of a variety of foods), with a more thorough study, it may turn out to be Gilbert's syndrome.

A doctor of any specialty can also suspect the presence of a pathology, if during the period of its exacerbation it was necessary either to take an analysis called "liver tests" or undergo an examination.

Definition of the term

Gilbert's syndrome (Gilbert's disease) is a chronic benign liver disease, accompanied by episodic icteric staining of the sclera and skin, and sometimes other symptoms associated with an increase in the concentration of bilirubin in the blood. The disease flows in waves: periods without pathological signs are replaced by exacerbations, which mainly appear after taking certain foods or alcohol. With the constant use of food “inappropriate” for liver enzymes, a chronic course of the disease may be noted.

This pathology is associated with a defect in the gene transmitted from the parents. It does not lead to severe destruction of the liver, as it happens with, but can be complicated by inflammation of the bile ducts or (see).

Some doctors consider Gilbert's syndrome not a disease, but an organismal genetic feature. This is not true: the enzyme, the violation of the synthesis of which underlies the pathology, is involved in the neutralization of various toxic substances. That is, if some function of the organ suffers, then the condition can be safely called a disease.

What happens in the body with this syndrome

Bilirubin, which causes the human skin and eye proteins to turn sunlight, is a substance formed from hemoglobin. After living for 120 days, a red blood cell, an erythrocyte, decomposes in the spleen, heme is released from it - an iron-containing non-protein compound, and globin - a protein. The latter, breaking up into components, is absorbed by the blood. Heme also forms fat-soluble indirect bilirubin.

With exacerbation, the skin has a more icteric color. It can turn yellow both the skin of the whole body and certain areas - feet, palms, nasolabial triangle, armpits.

Since it is a toxic substrate (mainly for the brain), the body tries to neutralize it as soon as possible. To do this, it is associated with the main blood protein - albumin, which transfers bilirubin (its indirect fraction) to the liver.

There, part of it is waiting for the enzyme UDP-glucuronyl transferase, which, by attaching glucuronate to it, makes it water-soluble and less toxic. Such bilirubin (it is already called direct, bound) is excreted with the contents of the intestine and urine.

Gilbert's syndrome is pathognomonic in violation of:

penetration of indirect bilirubin into hepatocytes (liver cells);
delivering it to those areas where UDP-glucuronyl transferase works;
binding to glucuronate.

This means that in the blood with Gilbert's syndrome, the level of fat-soluble, indirect bilirubin increases. It easily penetrates into many cells (the membranes of all cells are represented by a double lipid layer). There he finds mitochondria, sneaks inside them (their shell also mostly consists of lipids) and temporarily disrupts the processes that are most important for cells: tissue respiration, oxidative phosphorylation, protein synthesis, and others.

While indirect bilirubin is increased within 60 μmol / l (at a rate of 1.70 - 8.51 μmol / l), mitochondria of peripheral tissues are affected. If its level is higher, the fat-soluble substance gets a chance to penetrate the brain and hit those structures that are responsible for performing various vital processes. The most life-threatening bilirubin impregnation of the centers responsible for respiration and heart function. Although the latter is not inherent in this syndrome (here bilirubin occasionally rises to high numbers), but when combined with a drug, viral or alcoholic lesion, such a picture is possible.

When the syndrome manifested quite recently, there are no changes in the liver yet. But when it has been observed in a person for a long time, a golden-brown pigment begins to be deposited in its cells. They themselves undergo protein degeneration, and the extracellular matrix begins to undergo scarring.

Disease statistics

Gilbert's syndrome is a fairly common pathology among the population of the whole world. It occurs in 2 - 10% of Europeans, every thirtieth Asian, while Africans get sick most often - the disease is recorded in every third.

The disease manifests itself at the age of 12 - 30, when a surge of sex hormones is noted in the body. Men get sick 5-7 times more often: this is due to the effect of male sex hormones on bilirubin metabolism.

Many famous people suffered from it, which, however, did not prevent them from achieving success in life. Among them are Napoleon Bonaparte, tennis player Henry Austin, and possibly Mikhail Lermontov.

The reasons

The causes of the development of Gilbert's syndrome are genetic. It develops in people who have inherited a certain defect of the second chromosome from both parents: in the place that is responsible for the formation of one of the liver enzymes - uridine diphosphate-glucuronyl transferase (or bilirubin-UGT1A1) - two extra "bricks" appear. These are the nucleic acids thymine and adenine, which can be inserted one or more times. The severity of the course of the disease, the duration of its periods of exacerbation and well-being will depend on the number of "inserts".

As a result, the content of the enzyme is reduced to 80%, which is why its task - the conversion of indirect bilirubin, which is more toxic to the brain, into a bound fraction - is performed much worse.

This chromosomal defect often makes itself felt only from adolescence, when the metabolism of bilirubin changes under the influence of sex hormones. Due to the active influence of androgens on this process, Gilbert's syndrome is recorded more often in the male population.

How is this gene passed on?

The transmission mechanism is called autosomal recessive. This means the following:

there is no connection with the X and Y chromosomes, that is, an abnormal gene can manifest in a person of any gender;
each person has a pair of each chromosome. If he has 2 defective second chromosomes, then the symptoms of Gilbert's syndrome will appear. When a healthy gene is located on the paired chromosome at the same locus, the pathology has no chance, but a person with such a gene anomaly becomes a carrier and can pass it on to his children.

The probability of manifestation of most diseases associated with a recessive genome is not very significant, because if there is a dominant allele on the second similar chromosome, a person will only become a carrier of the defect. This does not apply to Gilbert's syndrome: up to 45% of the population has a defective gene, so the chance of passing it on from both parents is quite high.

trigger factors

Usually, the syndrome does not develop from scratch, since 20-30% of UDP-glucouronyltransferase provides the body's needs under normal conditions. The first symptoms of Gilbert's disease appear after:

alcohol abuse;
taking anabolic drugs;
severe physical activity;
taking drugs containing paracetamol, aspirin; the use of antibiotics rifampicin or streptomycin;
fasting;
overwork and stress;
dehydration;
operations;
treatment with drugs "Prednisolone", "Dexamethasone", "Diprospan" or others, based on glucocorticoid hormones;
eating large amounts of food, especially fatty.

These same factors exacerbate the course of the disease and provoke its relapse.

Types of the syndrome

The disease is classified according to two criteria:

The presence of additional destruction of red blood cells (hemolysis). If the disease proceeds with hemolysis, indirect bilirubin is initially elevated, even before the collision with the block in the form of a defect in the UDP-glucuronyltransferase enzyme.
Relationship with viral hepatitis (Botkin's disease, hepatitis B, C). If a person who has two defective second chromosomes suffers from acute hepatitis of viral origin, the pathology manifests itself earlier, up to 13 years. Otherwise, it manifests itself in 12 - 30 years.

Symptoms

Mandatory for the exacerbation of Gilbert's syndrome symptoms are the following:

periodically appearing and / or the whites of the eyes (the sclera turn yellow already at a smaller one). The skin of the whole body or a separate area may turn yellow (nasolabial triangle, palms, armpits or feet);
fast fatiguability;
decreased quality of sleep;
loss of appetite;
xanthelasma - yellow plaques in the eyelids.

You may also see:

sweating;
heartburn;
heaviness in the hypochondrium on the right;
nausea;
flatulence;
headache;
muscle pain;
diarrhea or, conversely, constipation;
weakness;
apathy or, conversely, irritability;
dizziness;
trembling of the limbs;
compressive pain in the right hypochondrium;
feeling that the stomach is "standing";
sleep disturbance;
disorders of the autonomic nervous system: cold sweat, with increased heart rate and nausea;

During the period of well-being, any signs are completely absent, and in a third of people they are not observed even during an exacerbation.

Exacerbations occur with varying frequency: from once every five years to five times a year - it all depends on the nature of the food taken, physical activity and lifestyle. Most often, relapses occur in spring and autumn, without treatment last about 2 weeks.

In people with a chronic course of the disease, the character often changes. This is due to the discomfort they experience due to the fact that their eye or skin color is different from others. He also suffers from the need for constant examinations.

How to determine what a syndrome is

A doctor can assume that a person has Gilbert's syndrome and its symptoms already by the way the disease began, as well as by an increase in the level of total bilirubin in venous blood due to its indirect fraction - up to 85 µmol / l. At the same time, enzymes that indicate damage to the liver tissue - ALT and AST - are within the normal range. Others: albumin level, coagulogram parameters, alkaline phosphatase and gamma-glutamyl transferase - within the normal range:

It is important that with Gilbert's syndrome, all tests that are prescribed to determine the cause of jaundice will be negative. It:

markers of viral hepatitis: A, B, C, E, F (it makes no sense to test for hepatitis D with unconfirmed hepatitis B);
Epstein-Barr virus DNA;
cytomegalovirus DNA;
antinuclear antibodies and antibodies to liver microsomes are markers of autoimmune hepatitis.

The hemogram should not show a decrease in the level of erythrocytes and hemoglobin, the form should not prescribe "microcytosis", "anisocytosis" or "microspherocytosis" (this indicates hemolytic anemia, not Gilbert's syndrome). Anti-erythrocyte antibodies determined in the Coombs reaction should also not occur.

Other organs do not suffer either (as, for example, in severe hepatitis B), as can be seen from the indicators of urea, amylase, and creatinine. There is no change and electrolyte balance. Bromsulfalein test: the release of bilirubin is reduced by 1/5. The genome of hepatitis viruses (DNA and RNA) by PCR from blood is a negative result.

The result of stool stercobilin is negative. Bile pigments are not found in the urine.

The syndrome can be indirectly confirmed by such functional tests:

phenobarbital test: taking a sleeping pill with this name for 5 days reduces the concentration of indirect bilirubin. Phenobarbital is selected at the rate of 3 mg / kg of body weight per day.
fasting test: if a person eats 400 kcal / day for two days, after that his bilirubin increases by 50 - 100%;
nicotinic acid test(the agent reduces the resistance of the erythrocyte membrane): if this drug is administered intravenously, the concentration of bilirubin in the unconjugated fraction will increase.

Genetic analysis

The diagnosis is confirmed by an analysis for Gilbert's syndrome. This is the name of the study of human DNA obtained either from venous blood or from buccal scrapings. When the disease is written: UGT1A1 (TA) 6 / (TA) 7 or UGT1A1 (TA) 7 / (TA) 7. If after the abbreviation "TA" (this means 2 nucleic acids - thymine and adenine) both times there is a figure 6 - this excludes Gilbert's syndrome, which leads a diagnostic search in the direction of other hereditary jaundices and hemolytic anemias. This analysis is quite expensive (about 5000 rubles).

After establishing the diagnosis, instrumental studies can be performed:

: the size, condition of the working hepatic surface, cholecystitis, inflammation of the intra- and extrahepatic bile ducts, stones in the biliary organs are determined;
Radioisotope study of liver tissue: Gilbert's disease is characterized by a violation of the excretory and absorbing functions;
Liver biopsy: no evidence of inflammation, cirrhosis, or lipid deposition in the liver cells, but a decrease in UDP-glucuronyltransferase activity can be determined.
Elastometry of the liver- Obtaining data on the structure of the liver by measuring its elasticity. Manufacturers of the Fibroscan device, on which the procedure is performed, say that the method is an alternative to a liver biopsy.

Treatment

The question of the need for therapy is decided by the doctor based on the condition of the person, the frequency of remissions, and the level of bilirubin.

Up to 60 µmol/l

Treatment of Gilbert's syndrome, if the unconjugated bilirubin fraction does not exceed 60 μmol / l, there are no signs such as drowsiness, behavioral changes, bleeding gums, nausea or vomiting, but only slight yellowness is noted, medication is not prescribed. Can only be applied:

phototherapy: illumination of the skin with blue light, which helps water-insoluble indirect bilirubin to turn into water-soluble lumirubin and be excreted in the blood;
diet therapy with the exclusion of the product provoking the disease, as well as the exclusion of fatty and fried foods;
sorbents: intake of activated carbon, or another sorbent.

In addition, a person will need to avoid sunburn, and when going out in the sun, protect the skin with sunscreen.

Treatment if above 80 µmol/l

If indirect bilirubin is above 80 µmol / l, Phenobarbital is prescribed at a dose of 50-200 mg per day, for 2-3 weeks (it causes drowsiness, so driving and going to work during treatment are prohibited). Can be used drugs with phenobarbital, which have a less hypnotic effect: "Valocordin", "Barboval" and "Corvalol".

The drug "Zixorin" ("Flumecinol", "Synclit") is also recommended: it activates individual liver enzymes, including glucuronyl transferase. It does not cause such a hypnotic effect as phenobarbital, and after its withdrawal it is more quickly excreted from the body.

In addition, other drugs are prescribed:

sorbents;
proton pump inhibitors ("Omeprazole", "Rabeprazole"), which will not allow large amounts of hydrochloric acid to be produced;
drugs that normalize intestinal motility: "Domperidone" ("Dormicum", "Motilium").

Diet for Gilbert's disease

The diet for the syndrome with hyperbilirubinemia more than 80 µmol / l is already more strict. Allowed:

lean meats and fish;
low-fat sour-milk drinks and cottage cheese;
dried bread;
biscuit cookies;
non-acidic juices;
fruit drinks;
sweet teas;
vegetables and fruits fresh, baked, boiled.

It is forbidden to eat fatty, spicy, canned and smoked foods, muffins and chocolate. You can also not drink alcohol, cocoa and.

Treatment in a hospital

If the level of bilirubin is high, or the person began to sleep worse, he is worried about nightmares, nausea, loss of appetite, and hospitalization is necessary. In the hospital, he will be helped to reduce bilirubinemia with the help of:

intravenous administration of polyionic solutions
powerful
monitor the correct intake of sorbents
blocking the action of toxic substances arising from liver damage, lactulose preparations will also be prescribed: Normaze, or others.
importantly, they will be able to carry out intravenous administration of albumin or blood transfusion.

In this case, the diet is extremely organic. Animal proteins (meat, offal, eggs, cottage cheese or fish) are removed from it, fresh vegetables, fruits and berries, fats are excluded. You can only eat cereals, soups without frying, baked apples, biscuit cookies, bananas and low-fat sour-milk products.

Remission period

In the period outside the exacerbation, you need to protect your biliary tract from stagnation of bile in them and the formation of stones. To do this, take choleretic herbs, preparations Gepabene, Ursofalk, Urocholum. Once every 2 weeks, "blind probing" is performed, when xylitol, sorbitol or Karlovy Vary salt are taken on an empty stomach, then they lie on their right side and warm the gallbladder area for half an hour.

The period of remission does not require patients to follow a strict diet, you just need to exclude foods that cause exacerbation (each person has a different set). The diet should have enough vegetables rich in fiber, necessarily - small amounts of meat and fish, less sweets, carbonated drinks and fast food. Alcohol is best avoided completely: even if you do not turn yellow after it, in combination with a fatty and heavy snack, it can lead to hepatitis.

The desire to keep bilirubin at normal levels with an unbalanced diet is also dangerous. It can lead a person to deceptive well-being: this pigment will decrease, but not due to improved liver function, but due to a decrease in the content of red blood cells, and anemia will lead to completely different complications.

Forecast

Gilbert's disease proceeds favorably, without causing an increase in mortality, even if indirect bilirubin in the blood is constantly elevated. Over the years, inflammation of the bile ducts develops, passing both inside the liver and outside it, cholelithiasis, which negatively affects the ability to work, but is not an indication for the issuance of disability.

If a couple has already had a child with Gilbert's syndrome, they should consult a medical geneticist before planning their next conception. The same must be done if one of the parents clearly suffers from this pathology.

If Gilbert's syndrome is combined with other syndromes in which bilirubin utilization is impaired (for example, with Dubin-Johnson or Crigler-Nayar syndrome), then the person's prognosis is quite serious.

A person suffering from this disease is more difficult to tolerate diseases of the liver and biliary tract, especially viral hepatitis.

Military service

Regarding Gilbert's syndrome and the army, the legislation indicates that a person is fit for service, but he should be assigned to such conditions where he will not need to work hard physically, starve or take products toxic to the liver (for example, headquarters). If the patient wants to devote himself to a professional military career, then this is not allowed for him.

Prevention

It is impossible to somehow prevent the appearance of a genetic disease, which is this syndrome. You can only delay the onset of the disease or make periods of exacerbation more rare if:

eat healthy foods, including more plant-based foods in the diet;
harden in order to be less sick with viral diseases;
monitor the quality of food so as not to cause poisoning (with vomiting, the syndrome worsens)
do not use heavy physical activity;
less exposure to the sun;
eliminate those factors that can lead to viral hepatitis (injecting drugs, unprotected sex, piercing / tattooing, and so on).

Vaccinations with Gilbert's syndrome are not contraindicated.

Thus, Gilbert's syndrome is a disease, although, in the vast majority of cases, it is not life-threatening, but it requires certain lifestyle restrictions. If you do not want to soon suffer from its complications, identify the factors that provoke an exacerbation and avoid them. Also discuss with a hepatologist or therapist all questions regarding the rules of nutrition, drinking regimen, medication or alternative treatment.

The appearance of a yellow tint of the skin or eyes after a feast with a wide variety of food and alcoholic beverages can be detected by a person himself or at the prompt of others. Such a phenomenon, most likely, will be a symptom of a rather unpleasant and dangerous disease - Gilbert's syndrome.

The same pathology can be suspected by a doctor (moreover, of any specialization), if a patient with a yellowish tint of the skin came to him for an appointment, or during the examination, he passed the “liver tests” tests.

What is Gilbert's syndrome

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The disease in question is a chronic benign hepatic pathology, which is accompanied by periodic staining of the skin and sclera of the eyes in yellow and other symptoms. The course of the disease is undulating - for a certain period of time a person does not feel any deterioration in health at all, and sometimes all the symptoms of pathological changes in the liver appear - this usually happens with the regular use of fatty, spicy, salty, smoked foods and alcoholic beverages.

Gilbert's syndrome is associated with a gene defect that is passed from parent to child. In general, this disease does not lead to severe changes in the structure of the liver, as, for example, with progressive cirrhosis, but it can be complicated by the formation of gallstones or inflammatory processes in the bile ducts.

There are specialists who do not consider Gilbert's syndrome to be a disease at all, but this is somewhat erroneous. The fact is that with this pathology there is a violation of the synthesis of an enzyme involved in the neutralization of toxins. If an organ loses some of its functions, then this condition in medicine is called a disease.

The yellow color of the skin in Gilbert's syndrome is the action of bilirubin, which is formed from hemoglobin. This substance is quite toxic and the liver, during normal functioning, simply destroys it, removes it from the body. In the case of the progression of Gilbert's syndrome, the filtration of bilirubin does not occur, it enters the bloodstream and spreads throughout the body. Moreover, getting into the internal organs, it is able to change their structure, which leads to dysfunction. It is especially dangerous if bilirubin "gets" to the brain - a person simply loses some of the functions. We hasten to reassure - with the disease under consideration, such a phenomenon is never observed at all, but if it is complicated by any other pathology of the liver, then it is almost impossible to predict the “path” of bilirubin in the blood.

Gilbert's syndrome is a fairly common disease. According to statistics, this pathology is more often diagnosed in men, and the disease begins its development in adolescence and middle age - 12-30 years.

Causes of Gilbert's syndrome

This syndrome is present only in people who from both parents "inherited" a defect in the second chromosome in the location responsible for the formation of one of the liver enzymes. Such a defect makes the percentage of the content of this enzyme 80% less, therefore, it simply cannot cope with its task (conversion of indirect bilirubin, toxic to the brain, into a bound fraction).

It is noteworthy that such a genetic defect can be different - there is always an insertion of two extra amino acids in the location, but there can be several such insertions - the severity of Gilbert's syndrome depends on their number.

The male hormone androgen has a great influence on the synthesis of the liver enzyme, so the first signs of the disease in question appear in adolescence, when puberty and hormonal changes occur. By the way, it is precisely because of the effect on the androgen enzyme that Gilbert's syndrome is more often diagnosed in men.

An interesting fact is that the disease in question does not manifest itself “from scratch”, a push to the appearance of symptoms is definitely needed. And such provoking factors can be:

drinking alcohol frequently or in large doses;
regular intake of certain drugs - streptomycin, paracetamol, rifampicin;
recent surgery for any reason;
frequent, chronic overwork,;
undergoing treatment with drugs based on glucocorticosteroids;
frequent consumption of fatty foods;
long-term use of anabolic drugs;
excessive physical activity;
fasting (even for medical purposes).

note:these factors can provoke the development of Gilbert's syndrome, but can also affect the severity of the disease.

Classification

Gilbert's syndrome in medicine is classified as follows:

Presence of hemolysis- additional destruction of erythrocytes. In the case of the course of the disease in question simultaneously with hemolysis, the level of bilirubin will be increased initially, although this is not typical for the syndrome.
The presence of a viral. If a person with two defective chromosomes carries viral hepatitis, then the symptoms of Gilbert's syndrome will appear before the age of 13.

Clinical picture

Symptoms of the disease in question are divided into two groups - mandatory and conditional. Mandatory manifestations of Gilbert's syndrome include:

areas of yellow skin that appear from time to time, if bilirubin decreases after an exacerbation, then the sclera of the eyes begin to turn yellow;
general weakness and fatigue for no apparent reason;
yellow plaques form in the eyelid area;
sleep is disturbed - it becomes shallow, intermittent;
appetite decreases.

Conditional symptoms that may or may not be present:

in the right hypochondrium, heaviness is felt regardless of the meal;
and dizziness;
apathy, irritability - violations of the psycho-emotional background;
pain in muscle tissues;
severe itching of the skin;
intermittent trembling of the upper limbs;
increased sweating;
bloating, nausea;
stool disorders - patients are worried.

During periods of remission of Gilbert's syndrome, some of the conditional symptoms may be absent altogether, and in a third of patients with the disease in question, they are absent even during periods of exacerbation.

How is Gilbert's Syndrome Diagnosed?

Of course, the doctor will not be able to make an accurate diagnosis, but even with external changes in the skin, the development of Gilbert's syndrome can be assumed. A blood test for bilirubin levels can confirm the diagnosis - it will be elevated. And against the background of such an increase, all other tests of liver functions will be within the normal range - the level of albumin, alkaline phosphatase, enzymes that indicate damage to the liver tissue.

With Gilbert's syndrome, other internal organs do not suffer - this will also be indicated by the indicators of urea, creatinine and amylase. There are no bile pigments in the urine, and there will be no changes in the electrolyte balance.

The doctor can indirectly confirm the diagnosis by specific tests:

phenobarbital test;
fasting test;
nicotinic acid test.

The diagnosis is finally made according to the results of the analysis for Gilbert's syndrome - the patient's DNA is examined . But even after that, the doctor conducts some more examinations:

Treatment of Gilbert's syndrome

The attending physician will decide how and whether it is necessary to carry out treatment at all with the disease in question - it all depends on the general condition of the patient, on the frequency of periods of exacerbations, on the duration of the stages of remission and other factors. A very important point is the level of bilirubin in the blood.

Up to 60 µmol/l

If at this level of bilirubin the patient feels within the normal range, there is no increased fatigue and drowsiness, and only a slight yellowness of the skin is noted, then drug treatment is not prescribed. But doctors may recommend the following procedures:

Above 80 µmol/l

In this case, the patient is prescribed Phenobarbital at a dose of 50-200 mg per day for 2-3 weeks. Given the fact that this drug has a hypnotic effect, the patient is prohibited from driving a car and visiting work. Doctors may also recommend Barboval or Valocordin drugs - they contain phenobarbital in small doses, so they do not have such a pronounced hypnotic effect.

It is imperative that if bilirubin in the blood is above 80 µmol / l with a diagnosed Gilbert's syndrome, a strict diet is prescribed. It is allowed to eat:

dairy products and low-fat cottage cheese;
lean fish and lean meat;
non-acidic juices;
biscuit cookies;
vegetables and fruits in fresh, baked or boiled form;
dried bread;
sweet tea and

Hospital treatment

If in the two cases described above, the treatment of a patient with Gilbert's syndrome takes place on an outpatient basis under the supervision of a physician, then if the level of bilirubin is too high, insomnia, decreased appetite, and nausea, hospitalization will be required. Bilirubin is reduced in the hospital by the following methods:

The patient's diet is radically adjusted - animal proteins (meat products, eggs, cottage cheese, offal, fish), fresh vegetables, fruits and berries and fats are completely excluded from the menu. It is allowed to eat only soups without frying, bananas, fermented milk products with a minimum level of fat content, baked apples, biscuits.

Remission

Even if a remission has come, patients should by no means “relax” - care must be taken to ensure that another exacerbation of Gilbert's syndrome does not happen.

First, you need to protect the biliary tract - this will prevent stagnation of bile and the formation of stones in the gallbladder. Cholagogue herbs, Urocholum, Gepabene or Ursofalk preparations will be a good choice for such a procedure. Once a week, the patient should do a "blind probing" - on an empty stomach, you need to drink xylitol or sorbitol, then you need to lie on your right side and warm the area of \u200b\u200bthe anatomical location of the gallbladder with a heating pad for half an hour.

Secondly, you need to choose a competent diet. For example, it is imperative to exclude from the menu products that act as a provoking factor in the event of an exacerbation of Gilbert's syndrome. Each patient has such a set of products is individual.

Doctors' forecasts

In general, Gilbert's syndrome proceeds quite well and is not the cause of the patient's death. Of course, there will be some changes - for example, with frequent exacerbations, an inflammatory process in the bile ducts may develop, gallstones may form. This affects the ability to work negatively, but is not a reason for disability registration.

If a child with Gilbert's syndrome was born in the family, then before the next pregnancy, the parents must undergo genetic examinations. A couple should undergo the same examinations if one of the spouses has this diagnosis, or there are obvious symptoms of it.

Gilbert's syndrome and military service

As for military service, Gilbert's syndrome is not a reason for receiving a deferral or a ban on military service. The only warning is that a young person should not physically overstrain, starve, work with toxic substances. But if the patient is going to build a professional military career, then this is not allowed for him - he simply will not pass the medical examination.

Preventive measures

It is impossible to somehow prevent the development of Gilbert's syndrome - this disease occurs at the level of genetic abnormalities. But on the other hand, preventive measures can be taken in relation to the frequency of exacerbations and the intensity of the manifestations of this disease. These measures include the following recommendations of experts:

Gilbert's syndrome is not a dangerous disease, but requires some restrictions. Patients must be under the control of a doctor, undergo regular examinations and comply with all medication prescriptions and recommendations of specialists.

Tsygankova Yana Alexandrovna, medical observer, therapist of the highest qualification category