Gilbert's syndrome: etiology, symptoms, diagnosis, and treatment methods

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Treatment of Gilbert's syndrome in European resorts

In this article we will discuss the hereditary liver disease Gilbert syndrome, also referred to in the medical literature as constitutional hepatic dysfunction, familial nonhemolytic jaundice, simple familial cholemia, and idiopathic non-conjugated hyperbilirubinemia. The reason for writing this article was the recent discovery of Gilbert's syndrome in one of our company's employees, the undesirable manifestations of which he has successfully controlled. But more on that later.

Gilbert's syndrome: etiology, symptomatology, diagnosis

Gilbert's syndrome is an inherited liver disease when the pigment bilirubin accumulates in the patient's blood. In healthy people, bilirubin, a product of the breakdown of hemoglobin, is processed by the liver and eliminated from the body naturally. In Gilbert's syndrome, the processes of capture, transport or conjugation (neutralization) of bilirubin in hepatocytes are disturbed in the body. This is caused by a gene mutation and the resulting defect in the enzyme uridine diphosphate-glucuronyltransferase (UDPGT), which is responsible for the above processes.

Symptomatology

The first symptoms of the disease usually appear in 20-30 years of age, and according to statistics, this disease occurs 10 times more often in men than in women. The disease remains for life, however, 30% of patients do not feel it, and with compliance with the regimen and proper nutrition to manage the manifestations of the disease is not very difficult. Gilbert's syndrome is characterised by:

  • Slight increase in the level of unconjugated bilirubin in the blood
  • Decrease in UDPHGT enzyme activity by 70% or more
  • Decrease of high bilirubin level under the influence of phenobarbital
  • Absence of other functional or anatomical changes in the liver
  • Formation of bilirubinate stones in the gallbladder or bile ducts.

Gilbert's syndrome can manifest in the following ways:

  • Rapid fatigue
  • Frequent dizziness, feeling of weakness
  • Insomnia, sleep disturbances
  • Aching pain or discomfort in the right subcostal region
  • Yellowing of the sclerae of varying degrees, in rare cases - the manifestation of a yellow tint on the skin
  • Less often, patients complain of digestive problems: mouth bitterness, heartburn, belching, loss of appetite, nausea, sometimes vomiting, stool disorders, bloating, a feeling of gastric congestion.

Diagnosis

  • If the doctor, after collecting anamnesis and examination, has a suspicion of Gilbert's syndrome, the patient is prescribed a number of laboratory and instrumental studies:
  • General blood test - in healthy people, the normal values are 5.1-17.1 μmol/L for total bilirubin; 1.7-5.1 μmol/L for direct bilirubin; 3.4-12 μmol/L for indirect bilirubin. For people with Gilbert's syndrome, the optimal value of total bilirubin is 21-24 µmol/L
  • Urinalysis with bilirubin determination
  • Coprogram with determination of stercobilin
  • Fasting test - one of the signs of Gilbert's syndrome is an increase in the indicator of total bilirubin on the background of fasting (during 48 hours the patient consumes no more than 400 kcal / day). The test will be considered positive if bilirubin increases by 50-100%
  • Less often in hospital settings, tests with phenobarbital and nicotinic acid are used: the body of a patient with Gilbert syndrome reacts by increasing bilirubin to nicotinic acid and, conversely, by decreasing it to phenobarbital.
  • DNA analysis of the UGT1 gene for the presence of mutations
  • Ultrasound of abdominal cavity organs
  • If indicated, additional studies are prescribed: prothrombin time, markers of hepatitis B, C, D viruses, bromsulfalein test, liver biopsy and others.

Now that you have gained some insight into Gilbert syndrome, we will share our colleague's story.

Aleksei's case history

Patient Aleksey O., 27 years old. In September 2015 was diagnosed with "Gilbert syndrome", at the time of examination the indicator of total bilirubin was 70 µmol/L.

The attending physician prescribed: "Heptral" 800 mg (intravenous drip, on 200 ml of saline solution) - 10 days, "Heptral" 400 mg 2 pills in the morning after meals - 10 days, further 1 pill - 10 days, "Ursofalk" - 2 capsules 3 times a day after meals, nutrition according to diet № 5 with the exclusion of spicy, smoked, fatty food, carbonated drinks, coffee, tomatoes, vinegar, mutton, mushrooms, yolks and recommended to drink choleretic teas.

During the first month after diagnosis, Aleksey followed a diet excluding strong stimulants of gastric and pancreatic secretion, fried foods, refractory fats and foods high in purine and cholesterol. On the other hand, dietary emphasis was placed on the intake of vegetables, non-acidic berries and fruits, cereals, soups, dairy products, lean meat (chicken fillet, turkey, veal) and fish. Such a diet stimulated the strengthening of choleretic action, normalized intestinal peristalsis and contributed to the removal of cholesterol from the body. As a result, after a month of diet and drug treatment at home, the bilirubin level dropped to 60 µmol/L.

A repeat course of drug treatment was recommended to be repeated at six-month intervals. But very expensive drips in the spring and fall of 2016 did not bring the desired result, so it was decided to try spa hotel treatment as an alternative to medication.

The next stage in the treatment was a trip for 10 days in December 2017 to the spa hotel Vytautas mineral SPA in Birštonas (Lithuania). Throughout his stay in Lithuania, Aleksey continued to follow his diet, took a drinking course of "Vytautas" mineral water and led an active lifestyle: walked a lot, ran, performed various exercises. During 10 days spent in the spa hotel, the total bilirubin in the blood decreased to 47 µmol/L. For reference: mineral water "Vytautas" is saturated with sodium, bromine, potassium, calcium, magnesium, sulfates, chlorides and hydrogen carbonates. Water "Vytautas" normalises acidity and the process of secretion of gastric juice, improves gastric function. In case of liver diseases, the water helps by stimulating the formation of bile and its outflow into the duodenum, improves the biophysical properties and chemical composition of bile.

Aleksey spent the next 2 months at home, continuing to eat in accordance with diet number 5, drinking teas and medicinal decoctions. Strict adherence to the regimen allowed to keep bilirubin at the level of 47 µmol/L by the middle of February.

The final stage of the long treatment course was a trip to Karlovy Vary in February. During 21 days Aleksey stayed in the spa hotel Pavlov, continued to eat according to the diet № 5, actively walked and ran and drank mineral water from the spring № 6 - "Mill" or "Mlynsky" spring three times a day. The result was a decrease in bilirubin level to 27 µmol/L, which is an excellent result with a norm of 24 µmol/L.

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To summarise, it is worth saying that people with Gilbert's syndrome are practically healthy and, if detected in time, as well as if they follow the regimen, lead a normal life. Despite the fact that hyperbilirubinemia accompanies patients throughout life, it does not affect the reduction of life expectancy, but if the disease is neglected, then may develop cholelithiasis, psychosomatic disorders, gallstone disease, chronic hepatitis, sometimes duodenal ulcers. If the first symptoms are detected, immediately consult a doctor, and if the diagnosis is confirmed, then strictly follow the doctor's recommendations and you can quickly return to your usual way of life. Remember that the disease is amenable to spa treatment. We wish you good health!

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