Gilbert's Syndrome: Symptoms, causes and treatment. How dangerous Gilbert

Gilbert's syndrome (Gilbert's disease) - a genetic disorder, which is characterized by the violation of bilirubin metabolism. Illness among the total number of diseases considered to be quite rare, but the number of hereditary is the most common.

Clinicians found that this disorder is diagnosed more often in men than in women. acute peak in the age group of two to thirteen years, but can occur at any age, as the disease is chronic.

Become triggering factor of the characteristic symptoms may be a large number of predisposing factors, such as maintaining an unhealthy lifestyle, excessive exercise, indiscriminate reception drugs and many others.

What is it in simple words?

Simply put Gilbert's syndrome is a genetic disease that is characterized by impaired utilization of bilirubin. Liver patients properly neutralize bilirubin, and he begins to accumulate in the body, causing various symptoms of the disease. It was first described by French gastroenterologist - Augustin Nicolas Gilbert (1958-1927) and his colleagues in 1901.

Since this syndrome has few symptoms and signs, it is not considered as a disease, and most people are unaware that they have this pathology, until a blood test shows an increased level of bilirubin.

U.S. from about 3% to 7% of the population have Gilbert's syndrome, according to the National Institute of Health - gastroenterologists some consider that the incidence may be greater and up to 10%. The syndrome manifests itself most often in men.

Causes of

Syndrome occurs in people who are from both parents got a second defect in chromosome locations responsible for the formation of a hepatic enzyme - uridine diphosphate glucuronyl (or bilirubin-UGT1A1). This causes a decrease in the content of the enzyme to 80%, due to which its task - converting a toxic for indirect bilirubin in the brain associated fraction was - performed much worse.

The genetic defect may be expressed in different ways: in the location-the UGT1A1 bilirubin observed insertion of two extra nucleic acids, but it can occur more than once. This will depend on the severity of disease occurrence, the duration of his periods of exacerbation and well-being. Said chromosomal defect often makes itself known only since adolescence, when bilirubin metabolism changes under the influence of sex hormones. Due to the active influence on this process is androgen, Gilbert's syndrome is recorded more frequently in males.

Called transmission mechanism - an autosomal recessive. This means the following:

  1. No connection to the X and Y chromosomes, that is, the abnormal gene can express a person of either sex;
  2. Everyone has a pair of every chromosome. If he second defective chromosome 2, the Gilbert syndrome manifest. When paired chromosomes in the same locus is a healthy gene from the disease have no chance, but a man with a genetic anomaly becomes a carrier and can pass it on to their children.

The probability of the majority of diseases linked to recessive genome, not very It is significant, because in the presence of a dominant allele on the second chromosome of such persons will only be defect support. This does not apply to Gilbert syndrome: Up to 45% of the population have the gene is defective, so the chance of passing it from both parents is large enough.

Symptoms of Gilbert's syndrome

Symptoms of this disorder are divided into two groups - mandatory and conditional.

Mandatory manifestations Gilbert's syndrome include:

  • general weakness and fatigue for no apparent reason;
  • the eyelids are formed yellow plaques;
  • disturbed sleep - it becomes shallow, intermittent;
  • decreased appetite;
  • occasionally appearing skin of yellow hue, if the bilirubin is reduced after an exacerbation, then begin to turn yellow sclera eyes.

Conditional symptoms that may or may not be present:

  • pain in the muscle tissue;
  • pronounced itching of the skin;
  • periodically occurring jitter upper limbs;
  • excessive sweating;
  • in the right upper quadrant felt heaviness regardless of food intake;
  • headache or dizziness;
  • lethargy, irritability - disorders of mental and emotional background;
  • bloating, nausea;
  • violations of the chair - worried sick diarrhea.

During periods of remission Gilbert syndrome it is some of the conventional symptoms may be absent, and one-third of patients considered disease are absent, even in periods of exacerbation.


Confirm or refute Gilbert's syndrome helped by various laboratory tests:

  • bilirubin in the blood - normal levels of total bilirubin equal 8,5-20,5 mmol / l. When Gilbert's syndrome there is an increase of total bilirubin by indirect.
  • CBC - blood marked reticulocytosis (increased content of immature erythrocytes) and mild anemia - 100-110 g / l.
  • biochemical analysis of blood - blood sugar - normal or somewhat reduced, blood proteins - in the normal range, alkaline phosphatase, AST, ALT - normal, thymol test negative.
  • urinalysis - no deviations from the norm. The presence in urine urobilinogen and bilirubin evidence of liver disease.
  • blood clotting - prothrombin ratio and prothrombin time - within the normal range.
  • markers of viral hepatitis - are absent.
  • Ultrasound liver.

Differential diagnosis of Gilbert's syndrome, a syndrome Dubin-Johnson and Rotor:

  • Increased hepatic - typically, usually negligible;
  • Bilirubinuria - is absent;
  • Increase coproporphyrins in urine - no;
  • Activity glucuronyl - reduction;
  • The increase in spleen - not;
  • Pain in the right upper quadrant - rarely, if there is - aching;
  • itchy skin - is absent;
  • Cholecystography - normal;
  • Liver biopsy - normal or deposition of lipofuscin, muscular dystrophy;
  • Bromsulfaleinovaya sample - often the norm, sometimes a slight reduction in clearance;
  • Increase of bilirubin in blood serum - mainly indirect (unrelated).

In addition, to confirm the diagnosis is carried out special tests:

  • Test with starvation.
  • Fasting for 48 hours or restriction of caloric intake (up to 400 kcal per day) leads to a sharp increase (2-3 times) of free bilirubin. Unbound bilirubin is determined on an empty stomach for the first day of the trial and in two days. The increase in indirect bilirubin 50-100% indicates a positive sample.
  • Test with pentobarbital.
  • Receiving phenobarbital at a dose of 3mg / kg / day for 5 days reduces the level of unbound bilirubin.
  • Assay with nicotinic acid.
  • Intravenous injection of nicotinic acid at a dose of 50 mg increases the amount of unbound blood bilirubin of 2-3 times over three hours.
  • Test with rifampicin.
  • Introduction 900 mg Rifampicin causes an increase in indirect bilirubin.

Also allows you to confirm the diagnosis of percutaneous puncture of the liver. Histological examination reveals a punctate no signs of chronic hepatitis and liver cirrhosis.


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

In this group of patients hypersensitivity liver cells was noted to hepatotoxic factors such as alcohol, drugs, certain groups of antibiotics. Therefore, if the above factors to control the level of liver enzymes.

Treatment of Gilbert's syndrome

In remission, which may last for months, years or even a lifetime, special treatment is not required. Here, the main task - to prevent relapse. It is important to follow a diet, work and rest, not supercool and avoid overheating of the body, excluding high loads and uncontrolled medication.


Gilbert's disease treatment for jaundice development involves the use of drugs and dieting. Of the drugs used:

  • Albumin - to reduce bilirubin;
  • antiemetic - if indicated, in the presence of nausea and vomiting.
  • barbiturates - to reduce the level of bilirubin in the blood ( "Surital", "Fiorinal");
  • gepatoprotektory - for protection of liver cells ( "Geptral", "Essentiale forte");
  • cholagogue - to reduce skin yellowness ( "Karsil", "Holenzim");
  • diuretics - for excretion of bilirubin in the urine ( "Furosemide", "Veroshpiron");
  • chelators - to reduce the amount of bilirubin using its excretion from the intestine (activated carbon, "Polyphepanum", "Enterosgel");

It is important to note that the diagnostic procedure, the patient will have to take place on a regular basis to monitor the course of the disease and study the organism's reaction to the medication. Timely delivery of tests and regular visits to the doctor will not only reduce the severity of symptoms, but also warn possible complications, which include such serious somatic diseases such as hepatitis and gallstone disease.


Even if remission, patients are in any case can not be "relaxed" - will make sure that does not happen the next exacerbation of Gilbert syndrome.

Firstly, it is necessary to hold the patronage of the biliary tract - it prevents stagnation of bile and formation of gallstones. A good choice for such a procedure will cholagogue grass Uroholum drugs Gepabene or Ursofalk. Once a week, the patient must make "blind intubation" - fasting is necessary to drink xylitol or sorbitol, then must lie on the right side and the warm region anatomical location gallbladder heater for half an hour.

Second, you need to find a competent diet. For example, be sure to exclude from the menu of products that serve a precipitating factor in the case of aggravation of Gilbert's syndrome. Each patient a set of individual products.


Diet should be followed, not only in the period of exacerbation of the disease, but in periods of remission.

It is forbidden to use:

  • fatty meats, poultry and fish;
  • eggs;
  • hot sauces and spices;
  • chocolate, pastry;
  • coffee, cocoa, strong tea;
  • alcohol, carbonated drinks, juices in Tetra Pak cartons;
  • sharp, salty, fried, smoked, canned food;
  • whole milk and dairy products high fat (cream, sour cream).

Allowed to use:

  • all kinds of cereals;
  • fruits and vegetables in any form;
  • not fat dairy products;
  • bread, galetnoe pechente;
  • meat, poultry, fish is not fat varieties;
  • Fresh juices, fruit drinks, tea.


Weather favorable, depends on how the disease progresses. Hyperbilirubinemia remains for life, however, is not accompanied by increased mortality. Progressive changes in the liver does not usually develop. When insuring the lives of such people they relate to the usual risk. In the treatment with phenobarbital or Kordiamin bilirubin level is reduced to normal. It is necessary to warn patients that jaundice may occur after intercurrent infections, recurrent vomiting, and a missed meal.

A high sensitivity of patients to different hepatotoxic effects (alcohol, drugs, and many others.). Perhaps the development of inflammation in the biliary tract, gallstones, psychosomatic disorders. Parents of children suffering from this syndrome should consult a geneticist before planning another pregnancy. Likewise, should proceed if the relatives couples, are going to have children diagnosed with the syndrome.


Gilbert's disease occurs as a result of inherited gene defects. Prevent the development of the syndrome is not possible, as parents can only be carriers of signs and deviations from them do not appear. For this reason, the main preventive measures are aimed at preventing relapse and prolonging the period of remission. This can be achieved by eliminating the factors that trigger the pathological processes in the liver.

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