Diagnosis of Gilbert's Syndrome

Gilbert syndrome is a pathology transmitted from the parents in which the liver is not able to break bilirubin. It is manifested by a temporary increase in bilirubin, jaundice. For analysis on Gilbert's syndrome, venous blood will be required, and a general blood test taken from the finger is also informative.

Causes of

Disease Gilbert syndrome is a genetically determined disease. It is caused by a mutation of the gene responsible for the synthesis of the enzyme glucuronyl transferase. Insufficient amount of this enzyme leads to the fact that the product of the decomposition of hemoglobin is unable to join the molecule of glucuronic acid and enter the gallbladder, and from there already into the duodenum.

Accordingly, it penetrates the bloodstream and its concentration is much higher than normal, which leads to the fact that the blood is colored in the color of bilirubin( yellow).In large quantities, indirect or free bilirubin adversely affects the central nervous system.

Its disintegration is possible only in the liver and under the action of glucuronyltransferase. In Gilbert's disease, the concentration of bilirubin is lowered with the help of medications.

If one of the parents has Gilbert's syndrome, then the probability of inheriting the disease by the child is 50%

An exacerbation of the disease can occur in the following circumstances:

• drug therapy( anabolic, corticosteroids);
• excessive drinking;
• emotional overload, stress;
• surgical intervention, trauma;
• infectious diseases;
• enhanced physical activity;
• errors in the diet( lots of fatty foods, starvation, lack of diet, overeating).

When to do an analysis of

The reason to suspect a pathology is the presence of the following symptoms:

• discoloration of the skin and sclera;
• discomfort in the liver( feeling of heaviness);
• tenderness in the right hypochondrium;
• flatulence;
• indigestion( diarrhea or difficulty in emptying the intestine);
• nausea, bitter taste in the mouth;
• sleep disturbance;
• dizziness;
• depression.

A distinctive symptom of the pathology is jaundice, manifested from time to time( for example, after strong intoxication)

The degree of manifestation of icterus in everyone manifests itself in different ways: in some, only the sclera turns yellow, the second color all skin and mucous membranes, and the third appears yellow spotsthroughout the body. But it is possible that even with a significant jump in bilirubin, jaundice will be absent.

In a quarter of patients with Gilbert's syndrome, the liver is significantly enlarged and "peeps" out from under the ribs, with no pain during palpation. Every tenth has a spleen increased.

How the

is conducted The diagnosis of Gilbert's syndrome does not require a long-term study. The diagnosis is based on the clinical picture and the results of the laboratory study. Since Gilbert's syndrome is a genetic disease, the patient is found out if there are any abnormalities in the functioning of the liver in his relatives, that is, a family history is being studied. For the purpose of diagnosing the following studies are assigned.

Clinical blood test

Allows you to see the ratio of blood cells. With Gilbert's syndrome, the hemoglobin index is slightly reduced( 110-115 g / l) or increased to 160 g / l, in 15% of patients immature red blood cells are found, in 12% the osmotic resistance of erythrocytes is impaired.

General analysis of urine

No significant differences with normal indices should not occur. If urolinogen or bilirubin is found in urine, this indicates another pathology of the liver - hepatitis. With the syndrome, there are no bile pigments and the electrolyte balance is normal.

Biochemistry of blood

Indicators such as sugar, blood proteins, alkaline phosphatase, AST, ALT are normal or there are minor deviations. A decrease in albumin indicates a pathology in the liver or kidneys.

As a rule, the study shows a significant deviation from the norm of bilirubin concentration. Normally, this figure for men in the range of 17 mmol / l, with Gilbert's disease increases to 20-50 mmol / l, and when overloading the liver to 50-140 mmol / l. Plasma contains less than 20% of direct bilirubin.

In 30% of patients, bilirubin does not exceed the normal parameters when diagnosed

Other tests

The list of analyzes continues:

• Samples with phenobarbital .The patient takes phenobarbital for five days, then the concentration of bilirubin is repeatedly checked. If its level decreases, this is a confirmation of Gilbert's syndrome. Sample with vitamin PP .Niacin is given intravenously. A significant increase in bilirubin for 2-3 hours suggests Gilbert's syndrome or another pathology of the liver.
• Fasting test .After the first blood test, the patient is asked within two days to consume foods with low energy value( up to 400 kcal per day).If the second blood test shows an increase in bilirubin by a factor of 1.5-2, this confirms the presence of Gilbert's syndrome.
• Genetic analysis of .The DNA of the patient, more precisely, the UDFGT gene, is checked.

The pathology reveals the polymorphism of UGT1A1.This gene provides the production of uridine-diphosphate-glucuronidase, which participates in glucuranization( that is, in the capture of indirect bilirubin and binding it, turning it into a direct, capable of penetrating the gallbladder).

If there is a seventh TA repeat in the gene, then this leads to a decrease in the activity of the enzyme. This analysis can be prescribed if the patient is to take long-term medications that have a strong effect on the liver.

Genetic analysis of Gilbert's syndrome is the fastest and most reliable confirmation of the presence of liver disease associated with hyperbilirubinemia, however, it is expensive and can not be analyzed in all clinics. For the analysis, whole blood( 2-3 ml) is taken and checked by PCR.

This research can be carried out in the laboratory Invitro( cost about 4,5 thousand rubles).The interpretation of the result of genetic analysis is simple: if UGT1A1( TA) 6 /( TA) 7 or UGT1A1( TA) 7 /( TA) 7 is written in conclusion, then it means that the syndrome has been confirmed.

A general analysis of urine and blood can be done at any municipal polyclinic. The results of the analysis will not allow an accurate diagnosis, but they are quite informative in order to refute the assumption of a more serious disease.

Since the defining role is played by genetics, it is worthwhile to study the family history of the disease

Additional methods for diagnosing the liver condition

To determine if there is a pathology in the liver itself, and if there is, then the following studies will help to evaluate its extent:

• Ultrasound study of .The condition of not only the liver but also the gallbladder and kidneys is assessed. If there is no pathology, then this will help to eliminate hepatitis. During the exacerbation the liver increases. The doctor evaluates the size of the liver, looks, whether there are structural changes or inflammation in the bile ducts, excludes inflammation of the gallbladder.
• Computed tomography .It is necessary to exclude the development of the tumor and the formation of nodes.
• Biopsy of the .The procedure involves the collection of liver tissue with a special needle. It is necessary to check whether there are malignant tumors in the liver, and also to determine the level of the enzyme that does not allow bilirubin to enter the brain.
• Radioisotope study of .The method is used to assess blood circulation in the liver and its absorbent-excretory function, and also to check the patency of the bile ducts.
• Elastography .She is appointed to determine the degree of fibrosis of the liver.

If liver function is impaired and its anatomy altered, then there is a possibility that the cause of jaundice is not in the relatively harmless Gilbert syndrome, but in another disease that prevents the excretion of bilirubin from the body. It can be hepatitis, cirrhosis, Krigler-Najar syndrome, autoimmune pathologies, liver cancer.

Often, against the backdrop of Gilbert's disease, cholangitis, urolithiasis, chronic pancreatitis

develops. Doctors also recommend a thyroid study. If Gilbert's syndrome was diagnosed, then no special therapy is prescribed. The patient should monitor the diet( adhere to a balanced diet, do not skip meals) and do not get involved in physical activities.

Although there is no specific therapy for pathology, the patient still has to pass tests and learn about his diagnosis in order to prevent the development of chronic hepatitis and cholelithiasis. Leading the right way of life, you can not turn yellow at all.