Gilbert's Syndrome - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Congenital Anomalies

Gilbert's syndrome - a genetic disorder that is characterized by impaired utilization of bilirubin.Liver patients properly neutralize bilirubin, and it starts to accumulate in the body, causing various symptoms of the disease.

Gilbert's syndrome was first described by French gastroenterologist - Augustin Nicolas Gilbert (1958-1927) and his colleagues in 1901.This pathology has several names: familial non-hemolytic jaundice, benign familial icterus, constitutional hepatic dysfunction or Gilbert's syndrome.It occurs due to an increase in the amount of blood plasma unconjugated bilirubin, without evidence of liver injury, biliary obstruction or hemolysis.The disease is a family owned and inherited.The disease occurs due to a genetic defect that leads to disruption of the formation of an enzyme that promotes utilization of bilirubin.People with Gilbert's syndrome have moderately elevated levels of bilirubin in the blood, which can sometimes cause jaundice of the sclera eyes and skin.Gilbert's syndrome does

not require radical treatment.As this syndrome has few symptoms and signs, it is not considered as a disease, and most people are unaware that they have this pathology, is a blood test did not show elevated levels of bilirubin.In the United States, approximately 3% to 7% of the population have Gilbert's syndrome, according to the National Institutes of Health - some gastroenterologists believe that the prevalence may be higher and as high as 10%.The syndrome manifests itself most often in men.

reason Gilbert syndrome.

main functions of the liver

The liver is the largest organ of the human body.Some of the key functions of the liver:
• Transforms thyroid hormone thyroxine (T4) in a more active form of triiodothyronine (T3).Lack of conversion can lead to hypothyroidism, chronic fatigue, weight gain, poor memory, and the appearance of other symptoms.Creates
• GTF (Glucose Tolerance Factor) of chromium, niacin and possibly glutathione.GTF required for insulin to properly regulate blood sugar.
• liver synthesizes bile salts, which are emulsified fats and fat-soluble vitamins A, D, E, K for better absorption.The liver also removes some of the fat-soluble toxins from the body.
• Activation of vitamins in their biologically active forms - coenzymes.Practically each nutrient to be biotransformed in the liver biochemical proper form before stocking, transported or incorporated into metabolic processes.
• accumulation of nutrients, especially vitamins A, D, B-12 and iron for consumption as required.
• Produces carnitine from lysine and other nutrients.Carnitine is the only known bionutrientom that can transport fats into the mitochondria where they are used to generate ATP energy.Mitochondria generate 90% of the energy of ATP at the cellular level.
• The main regulator of protein metabolism.The liver converts various amino acids to each other as required.
• Produces cholesterol and converts it into various shapes required for the transport of substances to the tissues.
• detoxification function - this is one of the most important functions of the liver.Most of the harmful substances and products of metabolism in the liver is neutralized.Since the decay products of cellular elements of the body, undergo a series of transformations, such as erythrocyte decay products.

hyperbilirubinemia - increased blood levels of bilirubin - occurs because the reduced activity of the enzyme glucuronyl that conjugated bilirubin.Neutralization, which extends in the liver does bilirubin soluble in water, so that it can be dissolved and enter into the bile to the duodenum, and finally to withdraw from the body.The average lifespan of a red blood cell is 120 days, after which it is utilized and falls into bilirubin and hemoglobin.Directly in the liver is converted into insoluble forms of bilirubin in water soluble form.Gilbert's syndrome is caused by a gene defect - UDP-glucuronosyltransferase mutation of the gene responsible for the production of this enzyme.Users inherit the syndrome from parents.Bilirubin is not subjected to neutralization and accumulates in the blood.When the level reaches a certain point, the patient may experience symptoms of jaundice.

Symptoms of Gilbert's syndrome

Most people who suffer from the disease, do not know what it is they have.bilirubin levels are usually remains within normal levels, and sometimes slightly increases.One of the first and most pathognomonic symptom is jaundice.You may see yellow skin or sclera, where the amount of bilirubin in the blood increases.Symptoms may intensify and become more apparent in combination with: a different disease, infection, dehydration, stress or menstruation.Although the level of bilirubin is unlikely ever to dangerous numbers, jaundice is one of the most important and disturbing symptoms.

Yellowness of the skin (left- rate, right - pathology)

Yellowness of the sclera

following symptoms may also be pathognomonic, but to a lesser degree.Patients describe the often: fatigue, blurred consciousness, headaches, memory loss, dizziness, depression, irritability, anxiety, nausea, loss of appetite, irritable bowel syndrome, abdominal pain and spasms, pain in the liver / gall bladder, tremor, itching skinpokrovov.Vozmozhno occurrence of insomnia, difficulty in concentrating, panic attacks, hypoglycemic reaction to food, carbohydrate intolerance, alcohol.

food intolerance can cause loose stools or diarrhea, bloating.There may be symptoms of respiratory and heart failure: shortness or shallow breathing, rapid heartbeat.Due to metabolic causes pain in muscles and joints, weakness, weight loss, and taste perversion.

following symptoms (observed very rarely, and in severe violation of bilirubin metabolism), which urgently require medical intervention: the difficulty in finding the words, feeling of intoxication, uncontrollable vomiting, excessive thirst, chest pain, muscle twitching (tremor), swollen lymphknots, a bitter or metallic taste in the mouth.Data indicate the development of symptoms of acute liver failure.

syndrome Diagnostics Gilbert

This diagnosis is often exhibited in late adolescence.The diagnosis is easy, if properly collected history of the disease, genetic typing, in this case it is not necessary.The patient takes a blood sample analysis, which explores the liver function and the level of direct and indirect bilirubin.If test results indicate a high level of insoluble bilirubin in the blood, and other indicators are normal, the doctor may put a diagnosis of Gilbert's Syndrome.In the presence of severe jaundice may require a number of differential diagnostic tests to rule out other diseases, which can be, for example:

1. Acute inflammatory diseases of the liver (hepatitis) - they can worsen the liver's ability to dispose of bilirubin.
2. Inflammation of the bile ducts - can inhibit bile flow and the removal of bilirubin.
3. Obstruction of the bile ducts - also prevents current of bile and contributes to the accumulation of bilirubin.
4. Hemolytic anemia - leads to an increase in bilirubin due to increased red blood cell breakdown.
5. Cholestasis - the flow of bile from the liver is interrupted.Bile contains bilirubin remains in the liver.
6. syndrome Crigler-Najjar - a congenital non-hemolytic unconjugated bilirubinemia.
7. syndrome Dubin - Johnson - enzimopaticheskaya jaundice, rare pigment hepatotoxicity, characterized by impaired excretion of bilirubin from hepatocytes into the bile capillaries.
8. Misleading jaundice - a harmless form of jaundice in which the yellowing of the skin associated with an excess of beta-carotene.

Additional tests may include an ultrasound scan of the abdominal cavity to prevent obstruction of the biliary tract or diffuse liver disease, diet for 24 hours to eliminate the cause of the increase in bilirubin alimentary and genetic typing.

Treatment of Gilbert's syndrome.

Gilbert's syndrome is considered harmless disease - as a rule, does not cause any health problems.At the moment, the development of medical technologies etiotrop effective treatment does not exist.Although jaundice symptoms can cause anxiety in the patient, the physician should explain that jaundice is not a regular symptom and should not cause concern.Long-term observation of the patient with Gilbert's syndrome is usually not required.If the patient notices the symptoms worsening jaundice, it must tell your doctor so that he ruled out a variety of other reasons.Patients who have symptoms of jaundice caused strong concern, may take in small amounts of phenobarbital.He has a small antigiperbilirubinemicheskoe action.Along with its beneficial effect, this drug is a sedative effect on the nervous system, and by prolonged use causes liver toxicity.Therefore, it is important to balanced and effective dosing of the drug.

diet can alleviate the severity of symptoms: products with a long shelf life and containing a large amount of preservatives should be excluded from the diet, it is necessary to use a multivitamin complexes to enhance general immunity, all products must be decoction, baked or steamed (minimum fat).

Complications syndrome Gilbert

itself Gilbert's syndrome does not cause any complications and does not damage the liver, but it is important from time to differentiate one type 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.

therapists Zhumagazy EN