Gilbert's syndrome is a hereditary disease that is transmitted with the dominant genes of one of the parents and is pigmented hepatosis. It is characterized by a constant increase in unbound bilirubin and impaired transport in hepatocytes. For a simple layman, the phrase “Gilbert's syndrome” will not say anything. What is the danger of such a diagnosis? Let's figure it out together.
Epidemiology
Unfortunately, this is the most common form of hereditary liver damage. It is especially common among the African population, among Asians and Europeans is much less common.
In addition, it is directly related to gender and age. In adolescence and young age, the likelihood of a manifestation is several times higher than in an adult. About ten times more common in men.
Pathogenesis
Now we will examine in more detail how Gilbert's syndrome works. What is this, in simple words you can’t describe. Here we need specific training in pathomorphology, physiology and biochemistry.
At the heart of the disease is a violation of the transport of bilirubin to hepatocyte organelles for its binding to glucuronic acid. The reason for this is the pathology of the cell wall of the transport system, as well as the enzyme that bilirubin binds to other substances. Together, this increases the content of unbound bilirubin in the blood. And since it is highly soluble in fats, all tissues whose cells contain lipids accumulate it, including the brain.
There are at least two forms of the syndrome. The first proceeds against the background of unchanged red blood cells, and the second contributes to their hemolysis. Bilirubin in Gilbert's syndrome is the very traumatic agent that destroys the human body. But he does it slowly, so that it is not felt until a certain point.
Clinic
It is difficult to find a more secretive
somatic disease than Gilbert's syndrome. Symptoms are either absent or mild. The most common manifestation of the disease is mild yellowness of the skin and sclera.
Neurological symptoms include weakness, dizziness, fatigue. Possible insomnia or sleep disturbances in the form of nightmares. Symptoms of dyspepsia are even less common in Gilbert syndrome:
- strange taste in the mouth;
- belching;
- heartburn;
- stool disorders;
- nausea and vomiting.
Provocative factors
There are some conditions that can provoke Gilbert's syndrome. Signs of manifestation can be caused by a dietary disorder, using drugs such as glucocorticosteroids and anabolic steroids. It is also not recommended to drink alcohol and engage in professional sports. Frequent colds, stress, including surgery and trauma, can also adversely affect the course of the disease.
Diagnostics
Analysis for Gilbert's syndrome, as the only true diagnostic sign, does not exist. As a rule, these are several signs that coincide in time, place and space.
It all starts with a medical history. The doctor asks leading questions:
- What are the complaints?
- How long have the pain in the right hypochondrium appeared and what are they?
- Do relatives have liver disease?
- Did the patient notice a dark urine? If so, what does this connect with?
- Which diet adheres?
- Does it take medicine? Do they help him?
Then comes the inspection. Pay attention to the icteric color of the skin and sclera, pain when feeling the abdomen. After physical methods, a series of laboratory tests begins. The Gilbert syndrome test has not yet been invented, so therapists and general practitioners are limited to the standard research protocol.
It necessarily includes a general blood test (characterized by an increase in hemoglobin, the presence of immature forms of blood cells). Behind him is the biochemistry of blood, which already extensively assesses the state of the blood. Bilirubin increases in a small amount, liver enzymes and acute phase proteins are also not a pathognomonic symptom.
In cases of liver disease, a coagulogram is made for all patients in order to adjust the blood coagulation ability, if necessary. Fortunately, with Gilbert's syndrome, deviations from the norm are insignificant.
Special laboratory tests
An ideal diagnostic option is a molecular study of DNA and PCR for specific genes that are responsible for the exchange of bilirubin and its derivatives. To exclude hepatitis, as a cause of liver disease, they put a serological reaction on antibodies to these viruses.
Of the general studies, a urinalysis is also mandatory. Assess its color, transparency, density, the presence of cellular elements and pathological impurities.
In addition, they make special diagnostic tests to more thoroughly check the level of bilirubin. There are several types of them:
- Test with fasting. It is known that after two days of a low-calorie diet in humans, the level of this enzyme rises one and a half to two times. It is enough to take an analysis before the start of the study, and then after 48 hours.
- Nicotine test. Forty milligrams of nicotinic acid is administered intravenously to the patient. An increase in bilirubin levels is also expected.
- Barbiturate test: taking phenobarbital at three milligrams per kilogram for five days causes a steady decrease in the level of the enzyme.
- Rifampicin test. Just enter nine hundred milligrams of this antibiotic to increase the level of unbound bilirubin in the blood.
Instrumental research
First of all, this, of course, is an ultrasound. With its help, you can see the structure and blood supply of not only the liver and biliary system, but also the remaining organs of the abdominal cavity to exclude their pathology.
Then comes the computer scan. Again, to exclude all other possible diagnoses, since in Gilbert's syndrome the structure of the liver remains unchanged.
The next step is a biopsy. It excludes tumors and metastasis, allows for additional biochemical and genetic studies with a tissue sample and a final diagnosis. An alternative to it is elastography. This method allows you to assess the degree of connective tissue degeneration of the liver and exclude fibrosis.
In children
Gilbert's syndrome in children manifests itself from three to thirteen years. It does not affect the quality and life expectancy, therefore, it does not make significant changes in the development of the child. It can be provoked in children by stress, physical activity, the onset of menstruation in girls and puberty in boys, and medical intervention in the form of surgeries.
In addition, chronic infectious diseases, high fever for more than three days, hepatitis A, B, C, E, acute respiratory infections and acute respiratory viral infections push the body to malfunction.
Disease and military service
A young person or teenager is diagnosed with Gilbert syndrome. "Do they take into the army with this disease?" - His parents immediately think, and he himself. After all, with such a disease, it is necessary to carefully manage your body, and the military service has nothing to do with it.
According to the order of the Ministry of Defense, young men with Gilbert's syndrome are called up for military service, but there are some reservations about the venue and conditions. It will not be possible to completely evade conscription. In order to feel good, you must follow these simple rules:
- Do not drink alcohol.
- Eat well and eat right.
- Avoid intense workouts.
- Do not take drugs that negatively affect the liver.
Such recruits are ideally suited to work at headquarters, for example. However, if you cherished the idea of a military career, then you will have to abandon it, since Gilbert's syndrome and a professional army are incompatible things. When submitting documents to a higher educational institution according to the relevant profile, the commission will be forced to reject them for obvious reasons.
So then, if you or your loved ones were diagnosed with Gilbert’s syndrome, “Are they enlisted in the army?” - This is no longer a relevant issue.
Treatment
Specific continuous treatment for people with this disease is not required. However, it is still recommended that certain conditions be met so that there is no exacerbation of the disease. First of all, the doctor should explain the rules of nutrition. The patient is allowed to eat stewed fruit, weak teas, bread, cottage cheese, light vegetable soups, dietary meat, poultry, cereals and sweet fruits. Fresh yeast pastries, lard, sorrel and spinach, fatty meats and fish, spicy spices, ice cream, strong coffee and tea, and alcohol are strictly prohibited.
Secondly, a person is required to observe a sleep and rest regimen, not to burden himself with physical activities, not to take medicines without consulting a doctor. As the basis of lifestyle, you should choose the rejection of bad habits, as nicotine and alcohol destroy red blood cells, and this affects the amount of free bilirubin in the blood.
If everything is observed correctly, then this makes Gilbert's syndrome almost invisible. What is the danger of relapse or failure of the diet? At least the appearance of jaundice and other unpleasant consequences. When symptoms manifest, barbiturates, choleretic drugs and hepatoprotectors are prescribed. In addition, gallstones are prevented. Enterosorbents, ultraviolet radiation, and enzymes are used to help lower bilirubin levels to aid digestion.
Complications
As a rule, there is nothing wrong with this hereditary disease. Carriers live for a long time, and if they follow the doctor’s instructions, then happily. But there are exceptions to any rule. So, what surprises can Gilbert's syndrome bring? What is the danger of a slow but sure disruption of the compensatory capabilities of the human body?
Malicious violators of the regime and diet eventually develop chronic hepatitis, and it is no longer possible to cure it. It is necessary to perform a liver transplant operation. Another unpleasant extreme is gallstone disease, which also does not manifest itself for a long time, and then inflicts a decisive blow to the body.
Prevention
Since this disease is genetic, there is no particular prevention. The only thing you can advise is to have a genetic consultation before planning your pregnancy. People with a hereditary predisposition can be recommended to lead a healthy lifestyle, to exclude hepatotoxic drugs, alcohol and smoking. In addition, it is necessary to regularly undergo a medical examination at least once every six months in order to identify diagnoses that can trigger the onset of the disease.
Here he is, Gilbert's syndrome. What is it, in simple words, it is still difficult to answer. The processes in the body are too complicated to immediately understand and accept.
Fortunately, people with this pathology have no reason to be afraid for their future. Particularly suspicious persons can attribute any ailment to Gilbert's syndrome. Why is this approach dangerous? Hyperdiagnosis of everything at once.