Gilbert's Syndrome - What Is It? Symptoms And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2024-01-07 17:49

Gilbert's syndrome - what is it? Symptoms and Treatment

Gilbert's syndrome is a hereditary liver disease that occurs against the background of an increase in free (unconjugated) bilirubin in the blood serum. The pathology is inherited in an autosomal dominant manner and is diagnosed mainly during puberty. The disease is benign.

Synonyms for the name of the disease: simple familial cholemia, idiopathic unconjugated hyperbilirubinemia, non-hemolytic familial jaundice.

Like most other genetic ailments, Gilbert's syndrome has no cure to get rid of the problem once and for all. But with the help of correctly selected therapy tactics and diet, patients manage to achieve persistent and long-term remission.

The disease is one of the fairly common genetic pathologies. It is found in 5% of the world's population. The disease often occurs in males at the age of 12-18 years or when puberty begins. For the first time, the disease became known thanks to the studies of the French physician Augustine Gilbert, which he published back in 1901.

During puberty in patients with Gilbert's syndrome, male hormones affect the metabolism of bilirubin. They inhibit the utilization of the bile pigment, which leads to its accumulation in the body. Bilirubin intoxication is characterized by a toxic effect on the internal organs and structures of the central nervous system. Whereas in the case of normal liver function, free bilirubin binds, becomes non-toxic and leaves the body naturally without any problems.

The disease is characterized by a wave-like course, when periods of exacerbation of the disease are replaced by remission. For some time, patients are unaware of the presence of pathology, as they feel great.

Yana Botezat, a general practitioner, explains briefly, in simple words, what Gilbert's syndrome is:

The symptoms of Gilbert's syndrome in these patients are influenced by a number of factors, including:

• Abuse of fatty foods and alcoholic beverages.
• Exacerbation of chronic inflammatory processes.
• Physical stress.
• Strong emotional stress.
• Severe dehydration, starvation, exhausting diets.
• Uncontrolled intake of medicines.
• Hormonal imbalance.

Gilbert's syndrome is one of the diseases that cannot be completely cured. This pathological condition can be successfully stopped with the achievement of long-term remission, but only if all the recommendations of doctors are followed, the diet and lifestyle are normalized.

Content:

• The main causes of the disease
• Factors provoking the development of the syndrome
• Signs and manifestations of Gilbert's syndrome
• What complications can there be?
• Diagnostics

• Treatment for Gilbert's syndrome

  • Medications
  • If bilirubin is up to 60 μmol / l
  • If bilirubin is above 80 μmol / L
  • Inpatient treatment
  • Remission period
• Prevention measures and prognosis

The main causes of the disease

The main reason for the development of Gilbert's syndrome is a hereditary mutation of a gene that is located on the second chromosome and is responsible for the synthesis of a specific enzyme called glucoronosyltransferase. This biologically active compound is formed in liver cells and stimulates the interaction of free bilirubin with glucuronic acid, as a result of which the resulting complex leaves the body without problems.

A decrease in glucuronosyltransferase in blood serum to 80% of the required amount is a prerequisite for the enzyme to stop performing its direct function and, accordingly, to transform unconjugated bilirubin into a bound form.

To understand the mechanism of the development of the disease, it is important to understand that the yellow pigment bilirubin appears in the blood as a result of the destruction of erythrocytes, which have existed for 120 days. A fat-soluble substance (unconjugated bilirubin) is transported to hepatocytes, where it is converted into a water-soluble form under the influence of the enzyme glucuronosyltransferase. After that, bilirubin accumulates in the gallbladder and, together with bile, takes part in digestion at the level of the small intestine. Having fulfilled its main function, this compound leaves the body naturally.

With a deficiency of glucuronosyltransferase, unconjugated bilirubin ceases to accumulate in liver cells and therefore continues to circulate in the blood. During the life of the body, the substance accumulates in the bloodstream in large quantities, causing hyperbilirubinemia. This condition is characterized by bilirubin intoxication and toxic effects on internal organs.

For a person to manifest the disease clinically, he must receive the defective genes from both parents. The syndrome does not develop if an altered hereditary material is obtained from only one side. But such people are able to transmit the mutagen to their children and thereby contribute to the spread of pathology among the population.

Factors provoking the development of the syndrome

Today, a number of factors are called that are likely to provoke an exacerbation of Gilbert's syndrome or its exacerbation:

• Frequent consumption of fatty foods.
• Alcohol intoxication or regular drinking of alcoholic beverages.
• Long courses of treatment with antibiotics, non-steroidal anti-inflammatory drugs, uncontrolled use of anabolic steroids, and the like.
• Treatment with hormonal drugs.
• Strict diets, fasting, refusal to drink water.
• Surgical interventions of varying complexity and localization, medical manipulations.
• Exhausting physical work, intense physical training.
• Stress, psychological disorders.
• Acute infectious diseases.
• Inflammatory processes in the liver.
• Diseases of the digestive tract.
• General hypothermia, overheating of the body, excessive insolation.
• Hormonal imbalance, menstruation.

These factors are not capable of causing gene mutation. They can only aggravate the clinical situation of an already existing disease, provoke its relapses. If you avoid harmful effects on the body in every possible way, then you can live with Gilbert's syndrome all your life and not face its clinical manifestations.

Background liver diseases, in particular, hepatitis and cirrhosis, can aggravate the course of the disease. In such cases, when the concentration of free bilirubin in the blood is up to 60 μmol / l, the substance penetrates into the cells and affects the mitochondria. Such disorders are manifested by a lack of cellular respiration and lead to a deficiency of energy.

When the concentration of bilirubin is more than 60 μmol / l, it penetrates into the cells of the head part of the central nervous system with damage to the centers of the respiratory and cardiovascular systems. The described disorders are not characteristic of Gilbert's syndrome and are diagnosed only if it is combined with liver disease.

Signs and manifestations of Gilbert's syndrome

Usually, Gilbert's syndrome is asymptomatic until free bilirubin reaches its critical concentration in the blood. The disease is characterized by a chronic course with long periods of remission against the background of short-term exacerbations. Among the main manifestations, asthenic, dyspeptic and icteric syndrome should be distinguished.

With exacerbations of Gilbert's syndrome in patients, their general condition remains satisfactory. Such patients present with the following complaints:

• Yellowing of the skin, which has an intermittent character and a different degree of severity in each case (some patients have subicteric sclera, others go to the doctors with a total yellowing of the entire skin and mucous membranes), and is accompanied by discomfort, itching, and yellow plaques on the eyelids;
• General weakness, decreased performance, lethargy, fatigue even with minor physical exertion, depressed mood, anxiety (sometimes even panic attacks), as well as irritability and aggressive behavior;
• Dyspeptic disorders in the form of belching, diarrhea, nausea, bloating.

Symptoms of the disease do not always occur in full. As a rule, only some of the manifestations of the disease are diagnosed in most patients. The extent of the lesion depends on several factors, including the individual characteristics of the human body, the presence of concomitant diseases, age, and more.

An objective examination in many patients is determined by the increased size of the liver, which protrudes from under the edge of the costal arch and hurts. Sometimes an enlargement of the spleen and a disruption in the normal functioning of the biliary tract are diagnosed in parallel. In every third patient, the disease is asymptomatic, and therefore goes unnoticed for a long time.

What complications can there be?

The disease is dangerous for its complications, which arise as a result of the toxic effect of free bilirubin on the internal organs. Some scientists do not regard Gilbert's syndrome as a full-fledged disease, calling it a set of certain symptoms. But this is far from the case. This nosological unit has its own characteristics, cause of development and characteristics, which allows us to call it a separate disease.

Hyperbilirubinemia leads to toxic damage to many internal organs, which, as a result, lose their function. This condition is most dangerous for the structures of the central nervous system. With Gilbert's syndrome, patients often complain of memory impairment or loss, impaired physiological reflexes, and mental disorders.

Diagnostics

An important stage on the way to determining the degree of complexity of the disease, the presence of complications from the internal organs and the choice of the only correct treatment tactics is the timely and complete diagnosis of the disease.

Laboratory research:

To confirm Gilbert's syndrome in a patient, modern medicine has a number of laboratory tests, including:

• Complete blood count (increased hemoglobin levels, decreased platelet count).
• General urine analysis and coprogram (the content of stercobilin decreases due to a violation of the formation of direct (bound) bilirubin in liver cells and, consequently, their derivatives in the bile ducts and intestines).
• A biochemical blood test (an increase in the level of total bilirubin, a slight increase in the enzymes AsAT, ALAT, GGTP, alkaline phosphatase, an increase in the concentration of the protein fraction of blood serum and a violation of the normal ratio of protein fractions).

Instrumental and other diagnostic methods:

For more detailed diagnostics, instrumental methods are attached to the usual laboratory methods, in particular:

• Ultrasound examination of the abdominal organs, in which specific signs of the disease are not determined in patients with Gilbert's syndrome (used for differential diagnosis of somatic diseases).
• Puncture of the liver to exclude serious diseases of the organ, which occur with a change in its morphological structure, such as chronic viral hepatitis, hepatosis, cirrhosis.
• Functional tests, namely a fasting test to determine an increase in bilirubin, a nicotinic test (an increase in bilirubin with intravenous administration of nicotinic acid), as well as a rifampicin test (an increase in the amount of bilirubin after the introduction of 900 mg of rifampicin), a phenobarbital test (after the appointment of phenobarbital at a dose of 3 mg / day already on the fifth day there is a decrease in the concentration of bilirubin in the blood serum).
• Genetic study of the DNA of the gene encoding UDPGT, with the determination of the mutant genotype A (TA) 7TAA in the promoter of the UGT1A1 gene.

Modern diagnostics allows doctors to conduct a comprehensive examination of the sick person's body and confirm or exclude the presence of Gilbert's syndrome.

Differential diagnosis

If a patient suspects Gilbert's syndrome, doctors carry out differential diagnostics with the following diseases:

• Chronic hepatitis of non-infectious origin.
• Viral hepatitis.
• Mechanical or hemolytic jaundice.
• Rotor Syndrome.
• Crigler-Nayar Syndrome.

The main diagnostic criterion for Gilbert's syndrome is an increase in the level of unconjugated bilirubin, which is associated precisely with hereditary hemolysis.

In viral hepatitis, the patient has positive markers for hepatitis B and C. In the case of chronic hepatitis, liver puncture will help to clarify the diagnosis. Obstructive jaundice is characterized by the presence of obstruction of the biliary tract as a result of their overlap by a tumor, calculi, a narrowing area, an enlarged pancreas. In this condition, the person will have changes on CT and ultrasound.

A number of diagnostic criteria typical for this particular disease will help to confirm the diagnosis of Gilbert's syndrome:

• Aching pain in the right hypochondrium.
• Itchy skin.
• Hepatosplenomegaly or isolated enlargement of the liver without changing the size of the spleen.
• An increase in the concentration of free bilirubin in the blood serum.
• Decreased activity of the enzyme glucuronyl transferase.
• Rarely, a slight decrease in clearance during the bromsulfalein test.
• A positive result of a genetic study to determine the presence of a mutant gene.

Treatment for Gilbert's syndrome

Treatment for Gilbert's syndrome includes several key points:

• Appointment of a special diet with a strict ban on the use of fatty foods and alcoholic beverages;
• Lifestyle changes with the exclusion of bad habits and excessive physical exertion;
• Taking medications;
• Treatment of concomitant diseases and complications of the underlying ailment.

Medications

Gilbert's syndrome during periods of exacerbation needs the use of drugs that help normalize the health of a sick person. This treatment is symptomatic. It is imperative to exclude probable factors of exacerbation of the disease, which aggravate the course of the disease.

The treatment regimen for the disease includes barbiturates, choleretic drugs, hepatoprotectors. In the presence of an inflammatory process, it is advisable to use antibacterial drugs. To reduce intoxication, doctors prescribe sorbents.

If bilirubin is up to 60 μmol / l

If the concentration of bilirubin does not exceed 60 units, the patient feels relatively normal, there are no symptoms of the underlying disease, therefore, treatment of this condition is not carried out. As an adjunctive therapy, the doctor prescribes sorbents to eliminate toxins from the intestines, as well as phototherapy to reduce the level of free bilirubin.

If bilirubin is above 80 μmol / L

When the concentration of bilirubin is more than 80 μmol / l, the patient is prescribed drugs from the phenobarbital group at a dose of 50-200 mg per day. The course of such therapy is 2-3 weeks. All this time, you can not get behind the wheel, go to work.

Phenobarbital is a prescription drug. However, the same substance is found in valocordin and corvalol, which are freely available. Both formulations contain 18 mg of phenobarbital per ml.

However, this drug has several significant disadvantages:

• Taking the drug is addictive.
• After the end of the intake, the effect of the drug stops.
• Long-term use leads to the development of liver disease.
• It worsens the general condition, therefore it is incompatible with driving vehicles and work that requires increased concentration of attention.

In addition to phenobarbital, the patient is prescribed:

• Activators of the enzymatic function of the liver (Synclit, Zixorin).
• Sorbents (Polyphepan, Enterosgel).
• Preparations with choleretic action (Allohol, Holosas).
• B vitamins.
• Hepatoprotectors (Essentiale forte).
• Drugs to reduce the secretion of hydrochloric acid (Gastrozole, Omez).
• Enzymes (Pancreatin, Creon).
• Diuretics (Lasix, Veroshpiron).
• Medicines for getting rid of dyspeptic disorders (Motilium, Motinorm).

Inpatient treatment

With a sharp increase in unconjugated bilirubin, the patient begins to complain of sleep disorders, nightmares, severe headaches, severe nausea. In this case, doctors recommend a person inpatient treatment and more intensive therapy with intravenous administration of colloidal solutions (Ringer's solution, Trisol), prescription of hepatoprotective agents, and blood transfusion.

In a hospital setting, all patients are assigned a special strict diet with the complete exclusion of animal proteins, fresh fruits and vegetables. Such people can eat all kinds of cereals, soups cooked in water, baked apples, dairy products without sugar and crackers.

It is this kind of nutrition that allows the body to quickly get rid of excess unconjugated bilirubin.

The diet menu for patients with Gilbert's syndrome without pronounced clinical manifestations includes:

• Dishes from low-fat meats and boiled fish.
• Dairy products.
• Juices (non-acidic).
• Biscuit biscuits.
• Bananas.
• Black bread rusks.
• Weakly brewed tea.

In a hospital setting, the patient begins intensive care, which includes several key points:

• Intravenous administration of polyionic solutions.
• Lactulose-based preparations (Duphalac).
• Hepatoprotectors.
• Sorbents.
• Albumin or whole blood transfusion.

The combined use of a strict diet and inpatient drug treatment can completely stop the complications of Gilbert's syndrome, prevent the development of complications and achieve a stable remission.

Remission period

In the period between exacerbations of the disease, the level of bilirubin is within normal limits, but this does not mean that the sick person can relax and forget about the rules of behavior during remission, which were recommended by the attending physician.

These recommendations include:

1. Cleansing the biliary tract to prevent congestion, which can lead to the formation of calculi. With Gilbert's syndrome, patients are recommended to use drugs based on herbs with a choleretic effect, which include Hepabene, Ursofalk.
2. Perform the blind probing procedure once every seven days. To do this, it is necessary to drink a sorbitol solution on an empty stomach, followed by heating the area of the liver projection for 30 minutes.
3. It is important to choose the right diet, which will allow the body to get rid of bilirubin in a timely manner and prevent the accumulation of the enzyme in the blood.

Detailed lecture on Gilbert's syndrome:

Prevention measures and prognosis

It is impossible to prevent exacerbation of Gilbert's syndrome in patients with an active mutant gene, since this process is encoded at the level of the human genome. At the same time, doctors insist on following their recommendations, which will allow the patient to achieve stable remission. Parents of genetics who are sick with Gilbert's syndrome are advised to consult specialists during pregnancy planning in order to minimize the risk of transmission of the disease to children.

It has been proven that Gilbert's syndrome increases the susceptibility of patients to the occurrence of various diseases of internal organs. The toxic effect of bilirubin has a detrimental effect on liver cells, and can also provoke cholangitis, gallstone disease, psychosomatic pathological conditions.

The prognosis of the disease in most cases is favorable. It is important to understand that the increased content of free bilirubin in the blood of a sick person remains for life. At moderate concentrations, there are no pathological changes in the organs. In the case of insurance, such people are classified as a standard risk group.