Gilbert's syndrome is a minor genetic disease that does not require specialized treatment. Nevertheless, it is very important to diagnose it quickly. In people with Gilbert's syndrome, many different medications, especially those taken over a long period of time, can damage the liver. What are the causes and symptoms of Gilbert's syndrome? What is its treatment?

Gilbert's syndrome , otherwiseperiodic juvenile jaundice , this isa metabolic genetic disease , the essence of which is there is an excessive accumulation of bilirubin in the blood, which is associated with a disturbance in the metabolism of this substance in the liver.

Bilirubin is a yellow pigment that is formed when hemoglobin (the red blood pigment) is broken down, which is released from broken red blood cells (erythrocytes). Free bilirubin passes from the blood plasma to the liver, where it is bound with glucuronic acid. Then the conjugated bilirubin is excreted into the bile ducts and concentrated in the gallbladder, giving bile its characteristic color. In patients with Gilbert's disease, excess pigment is not excreted into the bile ducts, which leads to hyperbilirubinemia - increased levels of bilirubin in the blood.

The disease occurs in only 7 percent of the population and is most often diagnosed in men.

Gilbert's syndrome - causes

The cause of the disease is a mutation of the uridine glucuronyl transferase gene, which is involved in the process of binding bilirubin with glucuronic acid. Changes in this gene lead to incomplete conjugation of bilirubin in hepatocytes (liver cells) and accumulation of free bilirubin in the blood.

Gilbert's syndrome is inherited in an autosomal recessive manner, which means that copies of the defective genes must be inherited from each parent for symptoms of the disease to develop.

Gilbert's syndrome - symptoms

The disease is usually asymptomatic, so it is most often diagnosed by accident during routine blood tests. Patients may periodically develop a slight, transient jaundice, which is manifested by a yellow discoloration of the whites of the eyes, mucous membranes and skin, and it is intensified under the influence of stress, exercise, starvation, alcohol consumption or diseases with high fever. In addition, the stools are light and discolored, andurine is dark in color. There are also symptoms resembling the flu or a cold, i.e. fatigue and headaches.

Gilbert's syndrome - diagnostics

In the case of Gilbert's syndrome, the final diagnosis is made on the basis of blood tests. The normal concentration of total bilirubin is approximately 0.2-1.1 mg / dl, of which free bilirubin (i.e. not bound to glucuronic acid) is approximately 0.2-0.8 mg / dl. In patients with Gilbert's syndrome, the concentration of free bilirubin is usually<4-5 mg/dl (72-90 μmol/l).

Previously, other causes of the increase in blood bilirubin levels should be ruled out:

  • biliary outflow disorders - biliary cirrhosis, sclerosing cholangitis, bile duct cancer, cholelithiasis, Vater's nipple cancer, pancreatic cancer, medications;
  • damage to liver cells - viral, toxic liver damage, decreased blood flow through the liver in patients with right heart failure;

Gilbert's syndrome - treatment and diet

The disease does not require treatment. However, patients with Gilbert's syndrome should change their diet. They should definitely avoid alcohol as it increases bilirubin levels in patients. You should also avoid low-calorie diets and fasting, eat regular meals and drink a sufficient amount of fluids (at least 2 liters per day). A stress-free lifestyle is also important.

Category:

Genetic diseases