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Gilbert's syndrome symptoms and treatment. In simple words about Gilbert's disease: causes, symptoms, diagnosis and treatment options

Gilbert's syndrome is a harmless hereditary disease that does not require special treatment. The disease manifests itself as a periodic or constant increase in blood bilirubin, jaundice, and some other symptoms.

Causes of Gilbert's disease

The cause of the disease is a mutation in the gene responsible for the functioning of the liver enzyme, glucuronyl transferase. This is a special catalyst that is involved in the exchange of bilirubin, which is a breakdown product of hemoglobin. In conditions of glucuronyl transferase deficiency in Gilbert's syndrome, bilirubin cannot bind to the glucuronic acid molecule in the liver, and, as a result, its concentration in the blood increases.

Indirect (free) bilirubin poisons the body, especially the central nervous system. Neutralization of this substance is possible only in the liver and only with the help of a special enzyme, after which it is excreted from the body in a bound form with bile. In Gilbert's syndrome, bilirubin is artificially reduced with the help of special drugs.

The disease is inherited in an autosomal dominant manner, that is, when one of the parents is sick, the probability of having a child with the same syndrome is 50%.

Factors that provoke exacerbation of Gilbert's disease are:

Taking certain medications – anabolic steroids and glucocorticoids;
Alcohol abuse;
Stress;
Operations and injuries;
Viral and colds.

Diets, especially unbalanced ones, fasting, overeating, and eating fatty foods can cause Gilbert's syndrome.

Symptoms of Gilbert's syndrome

The general condition of people with this disease is usually satisfactory. Symptoms of Gilbert's syndrome include:

The appearance of jaundice;
Feeling of heaviness in the liver area;
Mild pain in the right hypochondrium;
Bitterness in the mouth, nausea, belching;
Abnormal stool (diarrhea or constipation);
Bloating;
Fatigue and poor sleep;
Dizziness;
Depressed mood.

Stressful situations (psychological or physical stress), infectious processes in the biliary tract or nasopharynx additionally provoke the appearance of these signs.

The main symptom of Gilbert's syndrome is jaundice, which can occur periodically (after exposure to certain factors) or be chronic. The degree of its severity also varies: from yellowness of only the sclera to fairly pronounced diffuse staining of the skin and mucous membranes. Sometimes there is facial pigmentation, small yellowish plaques on the eyelids and scattered spots on the skin. In rare cases, even with increased bilirubin, there is no jaundice.

In 25% of sick people, liver enlargement is detected. At the same time, it protrudes 1-4 cm from under the arch of the rib, the consistency is normal, and no pain is felt when palpated.

In 10% of patients the spleen may be enlarged.

Diagnosis of the disease

Treatment of Gilbert's syndrome is preceded by its diagnosis. It is not difficult to detect this hereditary disease: the patient’s complaints are taken into account, as well as family history (identifying carriers or patients among close relatives).

To diagnose the disease, the doctor will prescribe a general blood and urine test. The presence of the disease is indicated by a reduced level of hemoglobin and the presence of immature red blood cells. There should be no changes in the urine, but if urobilinogen and bilirubin are found in it, this indicates the presence of hepatitis.

The following tests are also carried out:

With phenobarbital;
With nicotinic acid;
With fasting.

For the last test, an analysis for Gilbert's syndrome is carried out on the first day, and then after two days, during which the patient eats low-calorie food (no more than 400 kcal per day). An increase in bilirubin levels by 50-100% indicates that the person actually has this hereditary disease.

A test with phenobarbital involves taking a certain dose of the drug for five days. With this therapy, the level of bilirubin decreases significantly.

Nicotinic acid is administered intravenously. After 2-3 hours, the concentration of bilirubin increases several times.

Genetic analysis for Gilbert's syndrome

This method of diagnosing diseases with liver damage, which are accompanied by hyperbilirubinemia, is the fastest and most effective. It is a DNA study, namely the UDFGT gene. If UGT1A1 polymorphism is detected, the doctor confirms Gilbert's disease.

Genetic analysis for Gilbert's syndrome is also carried out to prevent liver crises. This test is recommended for people who are to take drugs with a hepatotoxic effect.

Treatment of Gilbert's syndrome

As a rule, no special treatment is required for Gilbert's syndrome. If you follow the appropriate regimen, the bilirubin level remains normal or slightly elevated without causing symptoms of the disease.

Patients should avoid heavy physical activity, fatty foods and alcohol-containing drinks. Long breaks between meals, fasting and taking certain medications (anticonvulsants, antibiotics, etc.) are undesirable.

From time to time, the doctor may prescribe a course of hepatoprotectors - medications that have a positive effect on liver function. These include drugs such as Heptral, Liv 52, Hofitol, Essentiale Forte, Karsil and vitamins.

A diet for Gilbert's syndrome is a prerequisite, since a healthy diet and a favorable regime have a positive effect on the functioning of the liver and the process of excretion of bile. There should be at least four small meals per day.

With Gilbert's syndrome, the diet is allowed to include vegetable soups, low-fat cottage cheese, lean chicken and beef, crumbly cereals, wheat bread, non-acidic fruits, tea and compote. Products such as lard, fatty meat and fish, ice cream, fresh baked goods, spinach, sorrel, pepper and black coffee are prohibited.

You cannot completely exclude meat and stick to vegetarianism, since with this type of diet the liver will not receive the necessary amino acids.

In general, the prognosis for Gilbert's syndrome is favorable, since this disease can be considered one of the normal variants. People with this disease do not require treatment, and although elevated bilirubin levels persist for life, it does not lead to increased mortality. Possible complications include chronic hepatitis and cholelithiasis.

Married couples where one of the spouses has this syndrome, before planning a pregnancy, needs to consult a geneticist who will determine the likelihood of the disease occurring in the unborn child.

There is no specific prevention of Gilbert's disease, since it is genetically determined, but by adhering to a healthy lifestyle and regularly undergoing medical examinations, it is possible to promptly stop diseases that provoke an exacerbation of the syndrome.

Video from YouTube on the topic of the article:

The syndrome is named after the French gastroenterologist, who in 1901 first diagnosed and described the condition of pigmentary hepatosis, which is now called Gilbert's disease.

Facts about Gilbert's syndrome:

Genetic Gilbert's syndrome is a fairly common disease that occurs in 3-7% of the population. According to some data, such a deviation is typical for 10% of the planet's inhabitants, and on the African continent it is detected in 36% of the population.
Statistics indicate that the disease is detected in men 8-10 times more often than in women; this is associated with the characteristics of their hormonal levels.
Among the people who have encountered such a deviation are many famous athletes and historical figures. For example, on the path of historical victories, Gilbert's syndrome did not become an obstacle for Napoleon.

REASONS

The main task of the liver is to cleanse the blood of metabolic products and toxins. From the internal organs, blood rushes to the liver, where the process of its filtration occurs. The blood contains bilirubin, which is a breakdown product of red blood cells. Its iron-containing complex breaks down to form toxic indirect bilirubin. When this substance is combined with the enzyme glucuronyltransferase, it loses its toxic properties and turns into direct bilirubin, which easily leaves the body. The causes of Gilbert's syndrome are a decrease in the activity of this enzyme. This causes the metabolites to continue to circulate in the body.

Gilbert's syndrome tends to undergo periodic exacerbations. There are a number of factors that contribute to this process.

Predisposing factors:

hard physical labor;
stress;
deviations from diet in the direction of starvation or overeating;
alcohol abuse, drug use;
overheating, hypothermia, excessive insolation;
viral infections;
injuries, surgical interventions;
taking medications from the group of antibiotics, anabolic steroids and non-steroidal anti-inflammatory drugs;
periods of menstruation in women.

CLASSIFICATION

Forms of the syndrome:

Congenital - the first symptoms appear between the ages of 12 and 30 years, without provocation by acute viral hepatitis.
Manifesting - provoked by acute viral hepatitis before the age of 12 years.

The syndrome is characterized by periodicity. In this regard, two periods are distinguished: exacerbation and remission.

SYMPTOMS

Deviations may not show themselves for a long time or may manifest themselves as minor clinical signs, which are often associated with temporary illness. The main symptom of Gilbert's syndrome is a moderate manifestation of jaundice, in which the skin, sclera of the eyes and mucous membranes of a person acquire a yellow tint. There are frequent cases of staining of skin areas in the area of the nasolabial triangle, on the feet, palms and armpits.

Secondary signs:

insomnia;
weakness, fatigue, dizziness;
bitter taste in the mouth;
decreased appetite;
heartburn;
nausea, occasionally vomiting;
constipation and diarrhea;
bloating;
flatulence;
feeling of heaviness in the stomach;
dull and nagging pain on the right under the rib;
the liver with Gilbert's syndrome increases in size in 60% of patients;
enlargement of the spleen occurs in 10% of cases.

DIAGNOSTICS

The disease is most often diagnosed in adolescence. With proper history taking, there are no difficulties in making a diagnosis.

Such signs of Gilbert's syndrome, such as age from 12 to 30 years and periodic episodes of jaundice of varying severity, provoked by alcohol intake, overwork, fasting and intense physical activity, give reason to say that this is Gilbert's syndrome.

In addition to examination and history taking, laboratory tests and physiological tests are prescribed to confirm assumptions and as a differential diagnosis.

Laboratory research:

identifying the level of bilirubin in the blood - increased levels of indirect bilirubin;
fasting test - for two days the energy value of the patient’s food should not exceed 400 kcal/day, the test is positive when bilirubin levels increase by 1.5-2 times;
nicotinic acid test - the drug is administered intravenously, after 3 hours an increase in the concentration of indirect bilirubin in the blood by 2-3 times is recorded;
phenobarbital test - taking the drug for five days reduces the level of indirect bilirubin in the blood;
biochemical blood test;
general blood and urine analysis;
stool analysis to detect sercobilin.

Instrumental diagnostic methods:

ultrasound examination to assess the condition of the liver and other internal organs of the digestive tract;
computed tomography for a more detailed examination;
biopsy of liver tissue for histological examination.

Such problems are within the competence of gastroenterologists; genetics in Gilbert's syndrome, as a rule, are not involved. Sometimes a genetic test of blood or epithelium from the oral mucosa may be required.

TREATMENT

The disease is considered benign and usually does not cause any serious health problems. Yellowness of the skin and mucous membranes gives cause for concern to the patient and others. In this case, the doctor should report that the fears are groundless and point out the irregularity of the symptoms.

At the moment, the methods of modern medicine do not have methods of etiotropic therapy to prevent the occurrence of symptoms of Gilbert's disease. Sometimes drug therapy can be used to reduce the severity of jaundice.

Drug therapy:

inducers of microsomal enzymes - phenobarbital-based drugs that reduce the level of indirect bilirubin in the blood;
hepatoprotectors;
choleretic drugs;
sorbents;
enzymes;
propulsants - stimulants of intestinal motility;
antiemetics.

Pharmaceutical drugs do not cure Gilbert's disease; they only reduce the severity of its manifestations and improve the patient's quality of life. Phototherapy is used as an additional method. Under the influence of irradiation, bilirubin is rapidly destroyed and eliminated.

In rare cases, with the development of severe complications of Gilbert's syndrome, when the bilirubin level reaches critical levels, a blood transfusion and albumin administration may be performed.

COMPLICATIONS

The disease is characterized by a favorable course and does not in itself cause the development of complications. When diagnosed with Gilbert's syndrome, the dangers are: chronic diet violations, non-compliance with the regimen and improper use of medications.

Possible complications:

chronic hepatitis with persistent inflammation of liver tissue;
cholelithiasis with the deposition of stones in the gallbladder and its ducts;
chronic cholecystitis;
cholangitis;
chronic diseases of the stomach, pancreas and duodenum;
psychosomatic disorders.

PREVENTION

Gilbert's disease occurs as a result of an inherited gene defect. It is impossible to prevent the development of the syndrome, since parents can only be carriers and do not show signs of abnormalities. For this reason, the main preventive measures are aimed at preventing exacerbations and prolonging the period of remission. This can be achieved by eliminating factors that provoke pathological processes in the liver.

Prevention measures:

Avoiding overheating, hypothermia and prolonged exposure to the sun.
Refusal of heavy physical labor, as well as intense sports.
It is prohibited to abuse alcohol and take drugs.
Antibiotics and other medications should be taken only as prescribed by a doctor in a clearly indicated dosage and in compliance with the timing of administration.
Follow a diet limiting fatty, fried, hot and spicy foods.
The diet should be constant without long breaks, this applies not only to food, but also to water.

PROGNOSIS FOR RECOVERY

In general, the prognosis is favorable. The predisposition to the appearance of jaundice persists throughout life, but this is not reflected in mortality rates, and progressive changes in the liver are also not observed. Treatment for such symptoms of Gilbert's syndrome with medications leads to a decrease in bilirubin levels to normal, but constant use of these medications is associated with the risk of side effects.

Patients have increased sensitivity to various hepatotoxic effects. Taking alcohol and medications negatively affects liver function and can provoke the development of cholelithiasis, cholecystitis and psychosomatic disorders.

Before planning a pregnancy, couples diagnosed with Gilbert's syndrome are recommended to attend a genetic consultation to assess the risk of the disease in their offspring.

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A hereditary disease with fairly common symptoms is called Gilbert's syndrome. This disease was first described back in 1901 by the French gastroenterologist Augustin Nicolas Gilbert.

This syndrome is widespread, but few patients know for sure that they have it. The features of this disease, as well as important information about it, are described in the information in our article.

Concept of the disease and code according to ICD-10

Gilbert's syndrome is described in the world medical encyclopedia under different names. These include “simple familial cholemia”, hereditary enzymopathy, constitutional liver dysfunction and benign familial non-hemolytic hyperbilirubinemia.

It is transmitted in an autosomal dominant manner, most often manifesting itself in men during puberty, less often in adulthood.

Photo of a patient with Gilbert's syndrome

Code in ICD - 10 (international classifier of diseases) - E 80.4. characterized by an increase in the level of indirect bilirubin in the blood.

Statistics of diagnosed cases

There have been no specific studies of this disease. According to some data, it affects from 1 to 35 people.

Most often these are men from 20 to 30 years old (about 8 to 10 times compared to women). This is due to hormonal characteristics, as well as hereditary factors in the transmission of the mutated gene.

Representatives of the Negroid race are carriers of this mutation in more than 265 recorded cases. Representatives of Central Asia are least susceptible to the syndrome (less than 1.5%).

Causes of development and symptoms

The main connection is the way the mutated gene is passed on to offspring. This gene is responsible for the synthesis of enzymes that form direct bilirubin from indirect bilirubin. The complex process of such transformation is simply not “read” by our body, which means it accumulates.

Indirect bilirubin and its derivatives are a toxic substance for our nervous system, causing its failure and the appearance of mild jaundice.

The mechanism of inheritance of a mutated gene is very complex and often involves hidden forms of the disease. At the same time, most relatives may not exhibit such symptoms; often completely healthy parents give birth to a child who inherits this feature.

Most often, parents, one of whom is a carrier or suffers from this disease, have completely healthy children with normal liver function.

The disease can be recognized by the following signs:

General weakness, fatigue. Yellowing of the sclera of the eyes, less often - of the skin. Jaundice increases with fasting, physical and emotional overload.
Discomfortable sensations in the right hypochondrium.
Formation of bilirubin stones in the gallbladder and its ducts.

Symptoms usually appear or worsen after consuming fatty foods, alcohol, or physical exertion. In some patients, external signs are not so pronounced, so the disease is hidden.

Disease during pregnancy

During pregnancy, the appearance of Gilbert's syndrome is far from uncommon. During this period, the overall load on the body, as well as on the internal organs, increases. This leads to the fact that the syndrome, which previously did not bother the patient, enters an aggravated phase.

In newborns

Gilbert's syndrome rarely manifests itself in young children. This is due to the fact that hormones have a great influence on the clinical picture.

The formation of these substances begins between the ages of 13 and 25, so Gilbert's syndrome does not occur in newborns.

If a child has had viral hepatitis, the disease may appear earlier, but the coincidence of such two unlikely factors is almost impossible.

Possible complications

Despite the fact that the disease usually does not manifest itself in any way for a long time, serious consequences can occur with regular eating disorders and alcohol abuse. This usually leads to chronic liver damage (hepatitis), stones and blockage of the bile ducts.

Death is possible only with self-medication and prolonged inactivity, when the lesion affects other tissues, causing general sepsis and (death).

Diagnostics

Gilbert's syndrome can be determined by. If the bilirubin level exceeds normal values, this particular disease can be suspected.

Norm of bilirubin for an adult:

Total bilirubin - from 5.1 to 17.1 mmol/l.
Direct bilirubin - from 1.7 to 5.1 mmol/l.
Indirect bilirubin - from 3.4 to 12.0 mmol/l.

To exclude other possible liver diseases, additional tests are performed on the patient.

A fasting test involves collecting blood after not eating for two days. The patient either adheres to a low-calorie diet or completely refuses to eat. With Gilbert's syndrome, after such a diet, bilirubin levels in the blood will increase 50 to 100 times.

The introduction of nicotinic acid preparations into the body also provokes an increase in bilirubin.

Another method is to take medications containing phenobarbital. This substance, on the contrary, reduces the level of bilirubin in the blood. Today, these diagnostic methods are the most common.

The maximum information content and accurate confirmation of the diagnosis can be obtained using genetic research.

Genetic analysis for Gilbert's syndrome, its cost

This modern type of laboratory research will allow us to identify and make an accurate diagnosis of this disease. The only drawback is the need to find a clinic to take it.

This option is not available in clinics and most hospitals, so many patients are unaware of their condition. The average cost of such a study is 200 rubles, the completion time is two weeks.

Treatment methods

This syndrome does not require special treatment. The disease is hereditary, so complete healing is also impossible. The only methods of therapy involve relieving symptoms and improving the general condition of the patient.

What you can do:

A diet that will allow you to forget about the disease for many years is mandatory. Without provocation from nutrition, the disease will not manifest itself in any way.
Taking choleretic drugs to prevent stagnation.
Complete peace, reduced stress and physical activity.
Additional examination of internal organs to exclude the possibility of additional infection.
Taking vitamins, group B is especially important for such patients.
A decrease in bilirubin levels is possible when taking phenobarbital and other drugs with similar effects.

An increase in bilirubin in the blood to 60 µmol/l is considered absolutely normal, because the patient is not bothered by any symptoms.

The first discomfort can be expected when this indicator exceeds 80 µmol/l and above. In this case, in addition to the characteristic yellowness of the sclera and skin, the patient suffers from insomnia, mood swings and general weakness.

Apathy, tearfulness, loss of appetite and dizziness are very often observed. All this is a sufficient reason to see a doctor.

Treatment in hospital

Hospitalization of the patient is carried out only if the condition has sharply worsened, and tests show that bilirubin is several times higher than normal. The treatment plan is developed individually.

It should be noted that patients with Gilbert's syndrome are characterized by the development of and. All this can provoke an additional increase in bilirubin and negative reactions in the body.

Folk remedies

Among such methods, regular courses of decoctions of medicinal herbs “work well”. To improve liver function and normal bile flow, special decoctions are used.

These can be ready-made mixtures and one-component teas from chamomile, barberry, tansy, milk thistle, calendula and other decoctions.

The use of such medications must also be coordinated with your doctor. The main contraindication is the presence of stones in the gall bladder and liver, which from such herbal medicine can move and block the ducts.

Forecast

Despite the fact that the disease cannot be cured, the prognosis for it is very favorable. If the patient adheres to the basic criteria of proper nutrition and a healthy lifestyle, he will not feel any discomfort or deterioration in his quality of life.

Typically, such people are more susceptible to the toxic effects of alcohol, and also react to taking certain groups of medications. All this does not pose a threat to life, and if the patient is accurately informed about his illness, it protects him from relapse.

Military service

Gilbert's syndrome is not a reason for a conscript to refuse to serve in the army. During an exacerbation of the disease or after the appearance of negative symptoms, hospitalization is necessary, but usually many young men learn about their illness after serving in the army and completely by accident.

On the other hand, the conscript will not have a professional career in the military field, because he simply will not pass the medical examination and pass the standards.

Prevention

There is no need to take special measures. Most patients live with this diagnosis for years, without even knowing about their characteristics. Typically, standard recommendations advise avoiding negative factors that can provoke the disease.

What to avoid:

Prolonged exposure to sunlight can cause jaundice.
Alcohol, especially in large doses, will also take a toll on the body.
Eating foods that are too fatty or spicy can increase bilirubin levels and worsen your overall condition.
Stress and physical activity are now also prohibited, because they can provoke a sharp increase in bilirubin levels and deterioration of the condition.

Gilbert's syndrome is a harmless and non-contagious disease, or rather, a feature of the body. It is caused by a mutation of a certain gene, which most often “fails” in the male body.

Eating errors, alcohol intake and nervous stress can lead to a worsening of the condition. Our article will tell you how the disease is characterized and what can be done in this case.

Video about Gilbert's disease:

Gilbert's syndrome is one of the types of hereditary pigmentary hepatosis. It is associated with a violation of bilirubin metabolism in the liver and the disease is called conditionally. It is more correct to consider it a genetically determined feature of the body.

The pathology was named after the French doctor Augustin Gilbert, who was the first to discover the syndrome. The disease is transmitted from parents to children - the source can be both mother and father. This type of inheritance is called autosomal dominant.

The disease is more often detected in men and occurs in 2-5% of the world's population.

Gilbert's syndrome - what is it in simple words

photo of symptoms

This is a congenital chronic disease in which the utilization of free bilirubin in liver cells - hepatocytes - is impaired. Other names are benign, non-hemolytic familial jaundice, constitutional hyperbilirubinemia.

- What is Gilbert's syndrome? In simple words, it can be described as the process of accumulation of bilirubin in the blood, which is normally converted in the liver and excreted from the body with bile.

- Why is Gilbert's syndrome dangerous? The prognosis of the disease is favorable - it does not lead to death and, being mainly chronic, does not cause pain or discomfort.

Many people throughout their lives do not even suspect that they have the disease until an increase in bilirubin is detected in the blood.

But if the diet, regimen is not followed, or due to an overdose of medications and other factors, the course of the disease worsens and, sometimes, complications develop - pancreatitis, cholangitis, chronic hepatitis and, extremely rarely, liver failure. In simple terms, you may not suspect this disease (especially if there are no visible symptoms of “yellowing”) until you cross a certain threshold in nutrition or treatment.

E80.4. – Gilbert’s syndrome code according to ICD 10 (international classification of diseases).

Cause of Gilbert's syndrome

Bilirubin is formed from the breakdown of hemoglobin, and the primary unbound form of this substance is toxic. Normally, its exchange consists of several stages:

transportation in blood plasma to the liver;
capture of its molecules by hepatocytes;
conversion to a non-toxic, bound form (conjugation);
biliary excretion, or in simple words – entry into the bile secretion;
final destruction and excretion in the intestines, where bile enters from the gallbladder.

The cause of Gilbert's syndrome is a mutation in the UGT 1A1 gene. It is responsible for the work of the enzyme that converts the bilirubin molecule into a non-free form. When sick, its activity decreases by about a third of normal. This is also accompanied by:

Decreased ability of hepatocytes to take up bilirubin;
A malfunction of the enzyme that transports it to the membranes of liver cells.

As a result, the first three stages of bilirubin metabolism are disrupted; it accumulates in the blood and, during exacerbations, leads to the development of symptoms of Gilbert's disease, which will be discussed further.

Symptoms of Gilbert's syndrome, photo

photo of Gilbert's syndrome manifestations

During the period of remission, the syndrome does not manifest itself in any way. The first symptoms in most cases are detected during puberty - from 13 to 20 years. At an earlier age, the disease makes itself felt if a child is infected with acute viral hepatitis.

Signs and symptoms of Gilbert's disease develop only during exacerbation, and in the vast majority of cases this is mild jaundice.

It manifests itself as a yellow coloration of the skin, mucous membranes and sclera - the so-called “liver mask”. The severity of the shade is clearly visible when the level of bilirubin in the blood reaches 45 µmol/l or more. Jaundice is accompanied by the appearance of xanthelasma - yellow granular inclusions under the skin of the upper and lower eyelids, which is associated with connective tissue dysplasia.

About half of patients complain of discomfort in the gastrointestinal tract:

nausea;
decreased appetite;
burping;
heartburn;
flatulence;
stool disorder.

Additional symptoms:

weakness, dizziness;
discomfort in the liver area;
bitter taste in the mouth;
swelling of the legs;
lowering blood pressure;
shortness of breath and heart pain;
anxiety, irritability;
headaches.

During exacerbations of the syndrome, the color of the discharge often changes - and the feces become colorless.

During life, provocateurs of exacerbation of the disease are:

Violation of the maintenance diet, fasting;
Use of alcohol or drugs;
High physical activity;
Stress, overwork;
Viral infections (flu, herpes, HIV and others);
Acute forms of existing chronic pathologies;
Overheating of the body, hypothermia.

Taking large quantities of certain drugs also affects the exacerbation of genetic Gilbert's syndrome. These include: Aspirin, Paracetamol, Streptomycin, Caffeine, glucocorticosteroids, Levomycetin, Cimetidine, Rifampicin, Chloramphenicol.

Diagnosis of Gilbert's syndrome

After examination and collection of anamnesis (complaints, medical history), a laboratory examination is carried out. The attending physician will order tests for Gilbert's syndrome, including special diagnostic tests:

Starvation. The first bilirubin sample is taken on an empty stomach in the morning before the test, the second - 48 hours later, during which the person receives no more than 400 kcal per day from food. In case of illness, the level of bilirubin increases by 50-100% in two days.
Test with phenobarbital. If Gilbert's syndrome occurs, then taking this drug for five days leads to a decrease in bilirubin in the blood.
Nicotinic acid test. 40 mg of the substance is administered intravenously, and if the percentage of bilirubin increases, the result is considered positive.

Other diagnostic methods:

urine test for the presence of bilirubin;
biochemical and general blood test;
DNA molecular diagnostics;
blood test for the presence of viral hepatitis;
test for stercobilin - in Gilbert's syndrome, this breakdown product of bilirubin is not detected in the stool;
coagulogram – assessment of blood clotting.

Diagnosis of Gilbert's syndrome also includes methods such as ultrasound and computed tomography of the abdominal cavity, liver biopsy and elastography (the study of liver tissue to detect fibrosis).

Treatment tactics for Gilbert's syndrome

During the period of remission, which can last many months, years and even a lifetime, no special treatment is required. The main task here is to prevent aggravation. It is important to follow a diet, a regime of work and rest, not to overcool and avoid overheating of the body, to exclude high loads and uncontrolled use of medications.

Treatment of Gilbert's disease when jaundice develops includes the use of medications and diet. Medicines used:

Barbiturates – reduce the concentration of bilirubin in the blood;
Hepatoprotectors (Essentiale, Ursosan, Karsil, milk thistle extract) – support liver functions;
Choleretic drugs (Hofitol, Carlsbad salt, Holosas) and herbs with a similar effect - accelerate the movement of bile;
Enterosorbents (Polysorb, Enterosgel, activated carbon) – help remove bilirubin from the intestines;
Means for the prevention of cholecystitis and cholelithiasis.

Adolescents may be prescribed Flumecinol instead of potent barbiturates. It is taken in small doses before bedtime as it causes drowsiness and lethargy.

Physiotherapeutic measures include the use of phototherapy, which uses blue lamps to destroy bilirubin accumulated in the skin.

Thermal procedures in the abdomen and liver are unacceptable.

If necessary, symptomatic treatment of vomiting, nausea, heartburn, diarrhea and other digestive system disorders is carried out. It is mandatory to take vitamins, especially group B. At the same time, all foci of infection present in the body are sanitized and biliary tract pathology is treated.

If the level of bilirubin in the blood reaches a critical level (above 250 µmol/l), then a blood transfusion and the administration of albumin are indicated.

Diet for Gilbert's syndrome

Medical nutrition provides for use in which the following are permitted:

different types of cereals;
lean meat and fish;
fruits and vegetables – fresh and boiled;
low-fat kefir, cottage cheese, yogurt, fermented baked milk;
dry biscuits, wheat bread;
freshly squeezed non-acidic juices, weak tea, compote;
vegetable soups.

Prohibited:

baked goods;
lard, fatty meat;
spinach;
mustard, pepper, other spices and spices;
coffee;
spinach and sorrel (as they contain oxalic acid);
chocolate, cocoa;
eggs;
alcoholic and carbonated drinks;
ice cream, full-fat milk, sour cream, cheese.

Complete vegetarianism is contraindicated.

Following a diet for Gilbert's syndrome not only alleviates the condition during jaundice, but also reduces the risk of exacerbations.

Gilbert's syndrome (Gilbert's disease) is a genetic pathology characterized by a disorder of bilirubin metabolism. The disease is considered quite rare among the total number of diseases, but among hereditary diseases it is the most common.

Clinicians have found that this disorder is more often diagnosed in men than in women. The peak of exacerbation occurs in the age category from two to thirteen years, but can occur at any age, since the disease is chronic.

A large number of predisposing factors can become a trigger for the development of characteristic symptoms, for example, leading an unhealthy lifestyle, excessive physical activity, indiscriminate use of medications and many others.

What is this in simple words?

In simple words, Gilbert's syndrome is a genetic disease that is characterized by impaired utilization of bilirubin. The liver of patients does not properly neutralize bilirubin, and it begins to accumulate in the body, causing various manifestations of the disease. It was first described by the French gastroenterologist Augustine Nicolas Gilbert (1958-1927) and his colleagues in 1901.

Because the syndrome has few symptoms and manifestations, it is not considered a disease, and most people do not know that they have this pathology until a blood test shows elevated bilirubin levels.

In the US, approximately 3% to 7% of the population has Gilbert's syndrome, according to the National Institutes of Health - some gastroenterologists believe the prevalence may be higher, as high as 10%. The syndrome occurs more often among men.

Reasons for development

The syndrome develops in people who have inherited from both parents a defect of the second chromosome in the location responsible for the formation of one of the liver enzymes - uridine diphosphate glucuronyl transferase (or bilirubin-UGT1A1). This causes a decrease in the content of this enzyme by up to 80%, which is why its task - converting indirect bilirubin, which is more toxic to the brain, into the bound fraction - is performed much worse.

The genetic defect can be expressed in different ways: in the bilirubin-UGT1A1 location, an insertion of two extra nucleic acids is observed, but it can occur several times. The severity of the disease, the duration of its periods of exacerbation and well-being will depend on this. This chromosomal defect often makes itself felt only starting 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.

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

There is no connection with chromosomes X and Y, that is, the abnormal gene can appear in a person of any gender;
Every person has a pair of each chromosome. If he has 2 defective second chromosomes, then Gilbert's syndrome will manifest itself. When a healthy gene is located on a paired chromosome at the same locus, pathology has no chance, but a person with such a gene anomaly becomes a carrier and can pass it on to their 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 gene with a defect, so the chance of passing it on from both parents is quite high.

Symptoms of Gilbert's syndrome

The symptoms of the disease in question are divided into two groups – obligatory and conditional.

Mandatory manifestations of Gilbert's syndrome include:

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

Conditional symptoms that may not be present:

pain in muscle tissue;
severe itching of the skin;
periodic trembling of the upper limbs;
regardless of food intake;
headache and dizziness;
apathy, irritability – disturbances of the psycho-emotional background;
bloating, nausea;
stool disorders - patients are bothered by diarrhea.

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

Diagnostics

Various laboratory tests help confirm or refute Gilbert's syndrome:

bilirubin in the blood - the normal content of total bilirubin is 8.5-20.5 mmol/l. With Gilbert's syndrome, there is an increase in total bilirubin due to indirect bilirubin.
general blood test - reticulocytosis (increased content of immature red blood cells) and mild anemia - 100-110 g/l are noted in the blood.
biochemical blood test - blood sugar is normal or slightly reduced, blood proteins are within normal limits, alkaline phosphatase, AST, ALT are normal, thymol test is negative.
General urine test - no deviations from the norm. The presence of urobilinogen and bilirubin in the urine indicates liver pathology.
blood clotting - prothrombin index and prothrombin time - within normal limits.
Markers of viral hepatitis are absent.
Ultrasound of the liver.

Differential diagnosis of Gilbert's syndrome with Dabin-Johnson and Rotor syndromes:

Liver enlargement is typical, usually insignificant;
Bilirubinuria - absent;
Increased coproporphyrins in urine - no;
Glucuronyltransferase activity decreased;
Enlarged spleen - no;
Pain in the right hypochondrium is rare, if present it is aching;
Skin itching - absent;
Cholecystography - normal;
Liver biopsy - normal or lipofuscin deposition, fatty degeneration;
Bromsulfalein test is often normal, sometimes there is a slight decrease in clearance;
An increase in bilirubin in the blood serum is predominantly indirect (unbound).

In addition, special tests are performed to confirm the diagnosis:

Fasting test.
Fasting for 48 hours or restricting food calories (up to 400 kcal per day) leads to a sharp increase (2-3 times) in free bilirubin. Unbound bilirubin is determined on an empty stomach on the first day of the test and two days later. An increase in indirect bilirubin by 50-100% indicates a positive test.
Test with phenobarbital.
Taking phenobarbital at a dose of 3 mg/kg/day for 5 days helps reduce the level of unconjugated bilirubin.
Test with nicotinic acid.
Intravenous injection of nicotinic acid at a dose of 50 mg leads to an increase in the amount of unconjugated bilirubin in the blood by 2-3 times over three hours.
Test with rifampicin.
Administration of 900 mg of rifampicin causes an increase in indirect bilirubin.

Percutaneous liver puncture can also confirm the diagnosis. Histological examination of the punctate shows no signs of chronic hepatitis and liver cirrhosis.

Complications

The syndrome itself does not cause any complications and does not damage the liver, but it is important to differentiate one type of jaundice from another in time.

In this group of patients, increased sensitivity of liver cells to hepatotoxic factors, such as alcohol, drugs, and some groups of antibiotics, was noted. Therefore, in the presence of the above factors, it is necessary to monitor the level of liver enzymes.

Treatment of Gilbert's syndrome

Drug treatment

Treatment of Gilbert's disease when jaundice develops includes the use of medications and diet. Medicines used:

albumin - to reduce bilirubin;
antiemetics - according to indications, in the presence of nausea and vomiting.
barbiturates - to reduce the level of bilirubin in the blood (Surital, Fiorinal);
hepatoprotectors – to protect liver cells (“Heptral”, “Essentiale Forte”);
choleretic agents - to reduce the yellowness of the skin (“Karsil”, “Cholenzim”);
diuretics – to remove bilirubin in the urine (“Furosemide”, “Veroshpiron”);
enterosorbents - to reduce the amount of bilirubin by removing it from the intestines (activated carbon, Polyphepan, Enterosgel);

It is important to note that the patient will need to undergo diagnostic procedures regularly to monitor the course of the disease and study the body’s response to drug treatment. Timely testing and regular visits to the doctor will not only reduce the severity of symptoms, but also prevent possible complications, which include such serious somatic pathologies as hepatitis and cholelithiasis.

Remission

Even if remission has occurred, patients should under no circumstances “relax” - care must be taken to ensure that another exacerbation of Gilbert’s syndrome does not occur.

First, you need to protect the bile ducts - this will prevent stagnation of bile and the formation of stones in the gall bladder. A good choice for such a procedure would be choleretic herbs, the drugs Urocholum, Gepabene or Ursofalk. Once a week, the patient should do “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 the 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 foods that act as a provoking factor in the event of an exacerbation of Gilbert's syndrome. Each patient has a different set of products.

Nutrition

The diet should be followed not only during periods of exacerbation of the disease, but also during periods of remission.

Prohibited for use:

fatty meats, poultry and fish;
eggs;
hot sauces and spices;
chocolate, pastry;
coffee, cocoa, strong tea;
alcohol, carbonated drinks, juices in tetra packs;
spicy, salted, fried, smoked, canned foods;
whole milk and high-fat dairy products (cream, sour cream).

Permitted for use:

all types of cereals;
vegetables and fruits in any form;
low-fat fermented milk products;
bread, biscuits;
meat, poultry, fish of non-fatty varieties;
freshly squeezed juices, fruit drinks, tea.

Forecast

The prognosis is favorable, depending on how the disease progresses. Hyperbilirubinemia persists for life, but is not associated with increased mortality. Progressive changes in the liver usually do not develop. When insuring the lives of such people, they are classified as a normal risk group. When treated with phenobarbital or cordiamine, bilirubin levels decrease to normal. It is necessary to warn patients that jaundice may appear after intercurrent infections, repeated vomiting and missed meals.

High sensitivity of patients to various hepatotoxic effects (alcohol, many drugs, etc.) was noted. It is possible to develop inflammation in the biliary tract, cholelithiasis, and psychosomatic disorders. Parents of children suffering from this syndrome should consult a geneticist before planning another pregnancy. The same should be done if relatives of a married couple planning to have children are diagnosed with the syndrome.