Yellowing of the mucous membranes, eye sclera, as well as the skin should alert any person. Everyone knows that such symptoms indicate certain violations in the work of such an important organ as the liver. These ailments must be controlled by a doctor. He will make the correct diagnosis and prescribe the necessary treatment. With an increase in the level of bilirubin, as a rule, yellowness appears. Benign hyperbilirubinemia also has similar symptoms. In the article we will analyze in more detail what kind of disease it is, what its causes and treatment methods are.
Determination of benign hyperbilirubinemia
In essence, bilirubin is a bile pigment, it has a characteristic red-yellow color. This substance is produced from red blood cells in hemoglobin, which decompose due to involutive changes in liver, spleen, connective tissue and bone marrow cells.
Benign hyperbilirubinemia is an independent disease, includes pigmented hepatosis, intermittent simple familial cholemia, intermittent juvenile jaundice, non-hemolytic familial jaundice, constitutional liver dysfunctions, retention jaundice and functional hyperbilirubinemia. The disease is manifested by intermittent or chronic jaundice, obvious violations of the liver and its structure without pronounced disorders. There are no obvious symptoms of cholestasis and increased hemolysis.
Benign hyperbilirubinemia (ICD code 10: E 80 - general disorders of bilirubin and porphin metabolism) also has the following codes E 80.4, E 80.5, E 80.6, E 80. Correspondingly encoded are: Gilbert syndromes, Kriegler syndromes, other disorders - Dubin-Johnson syndromes and Rotor syndromes, unspecified impaired bilirubin metabolism.
Causes of occurrence
Benign hyperbilirubinemia in adults in most cases are diseases of a family nature, they are transmitted by a dominant type. This is confirmed by medical practice.
There is posthepatitis hyperbilirubinemia - occurs as a result of viral acute hepatitis. Also, the cause of the disease can be transferred infectious mononucleosis; after recovery, patients may experience symptoms of hyperbilirubinemia.
The cause of the disease is a failure in the exchange of bilirubin. In the serum, this substance increases, or there is a violation of the capture or transfer of it into the liver cells from plasma.
A similar condition is also possible in cases when the binding of bilirubin and glucururoic acid is disturbed, which can be explained by a permanent or temporary deficiency of an enzyme such as glucuronyltransferase.
The listed mechanisms of hyperbilirubinemia characterize Gilbert, Krigler-Nayyar syndromes and posthepatitis hyperbilirubinemia. With Rotor and Dabin-Johnson syndromes, serum bilirubin increases due to a violation of pigment excretion into the bile ducts through the hepatocyte membrane.
Provocative factors
Benign hyperbilirubinemia, the diagnosis of which confirms the fact that it is most often detected in adolescence, can manifest its symptoms for many years and even a lifetime. In men, this ailment is detected much more often than in women.
The classic manifestation of the disease is yellowing of the sclera, icteric coloration of the skin may appear in some cases, not always. Manifestations of hyperbilirubinemia are often intermittent in nature, in rare cases they are permanent, not passing.
The following factors can provoke an increase in jaundice:
- severe physical or nervous fatigue;
- exacerbation of infections, damage to the biliary tract;
- drug immunity;
- colds;
- various surgical interventions;
- alcohol intake.
Symptoms of the disease
In addition to the fact that sclera and skin become yellowish, patients feel heaviness in the right hypochondrium. There are cases when dyspeptic symptoms are disturbing - this is nausea, vomiting, impaired stool, lack of appetite, increased gas formation in the intestines.
Manifestations of hyperbilirubinemia can lead to asthenovegetative disorders, which manifest as depression, weakness, rapid fatigue.
Upon examination, the doctor first draws attention to the yellowed sclera and a dull yellow skin tone of the patient. In some cases, the skin does not turn yellow. The liver is palpated along the edges of the costal arch, and may not be felt. There is a slight increase in body size, the liver becomes soft, the patient experiences pain during palpation. The spleen does not increase in size. Exceptions are cases where benign hyperbilirubinemia occurs as a result of hepatitis diseases. Post-hepatitis hyperbilirubinemia can also occur after an infectious disease - mononucleosis.
Benign Hyperbilirubinemia Syndrome
To benign hyperbilirubinemia in medical practice include seven congenital syndromes:
- Kriegler-Nayyar syndromes of type 1 and 2;
- Dabin-Johnson Syndromes;
- Gilbert's syndromes;
- Rotor Syndromes;
- Byler's disease (rare);
- Lucy Driscoll Syndrome (rare)
- Familial benign age-related cholestasis - benign hyperbilirubinemia (rare).
All of these syndromes arise in connection with a violation of bilirubin metabolism, if the level of unconjugated bilirubin, which accumulates in the tissues, is increased in the blood. Conjugation of bilirubin plays a huge role in the body, highly toxic bilirubin is converted to low toxicity, and digluoronide is a soluble compound (conjugated bilirubin). The free appearance of bilirubin easily penetrates into elastic tissues, is delayed in the mucous membranes, skin, and walls of blood vessels, while causing jaundice.
Kriegler-Nayyar syndrome
American pediatricians V. Nayyar and J. Kriegler as early as 1952 revealed a new syndrome and described it in detail. It was called type 1 Kriegler-Nayyar syndrome. This congenital pathology has an autosomal recursive type of inheritance. The development of the syndrome occurs immediately in the first hours after the birth of the baby. Similar symptoms are found equally often in both girls and boys.
The pathogenesis of the disease is due to the complete absence of an enzyme such as UDFGT (the enzyme urndin-5-diphosphate glucuronyl transferase). With type 1 of this syndrome, UFDGT is completely absent, free bilirubin increases sharply, indicators reach 200 μmol / l and even more. After birth on the first day, the permeability of the blood-brain barrier is high. In the brain (gray matter), pigment accumulates rapidly, yellow jaundice develops . A test with cordiamine in the diagnosis of benign hyperbilirubinemia, with phenobarbital, is negative.
Bilirubin encephalopathy leads to the development of nystagmus, muscle hypertension, athetosis, opistotonus, clonic and tonic seizures. The prognosis of the disease is extremely unfavorable. In the absence of intensive treatment, a lethal outcome is possible on the first day. Autopsy does not change the liver.
Dabin-Johnson Syndrome
Benign Johnson's syndrome of benign hyperbilirubinemia was first described back in 1954. Mostly this disease is common among residents of the Middle East. In men under the age of 25, it occurs in 0.2-1% of cases. Inheritance occurs in an autosomal dominant manner. This syndrome has a pathogenesis that is associated with impaired transport functions of bilirubin to hepatocyte, as well as from it due to the failure of the transport ATP-dependent membrane system of cells. As a result, the flow of bilirubin into bile is impaired, and bilirubin reflux into the blood from hepatocyte occurs. This is confirmed by the peak concentration in the blood of the dye after two hours when conducting samples using bromsulfalein.
A morphological characteristic is a chocolate-colored liver, where the accumulation of coarse granular pigment is high. Manifestations of the syndrome: persistent yellowness, recurrent skin itching, pain on the right side in the hypochondrium, asthenic symptoms, dyspepsia, enlarged spleen and liver. The disease can begin at any age. There is a risk of birth control after prolonged use of hormonal drugs, as well as during pregnancy.
Diagnose the disease on the basis of bromosulfalein test, with cholecystography with delayed excretion of bile contrast agent in the bile, in the absence of contrast in the gall bladder. Cordiamine is not used in the diagnosis of benign hyperbilirubinemia in this case.
Total bilirubin does not exceed 100 μmol / L, free and bound bilirubin has a ratio of 50/50.
The treatment for this syndrome has not been developed. The syndrome does not affect the life expectancy, but the quality of existence with this pathology worsens.
Benign Hyperbilirubinemia - Gilbert's Syndrome
This hereditary disease is most common, we will talk about it in more detail. The disease is transmitted from parents to children, associated with a defect in a gene that is involved in the exchange of bilirubin. Benign hyperbilirubinemia (ICD - 10 - E80.4) is nothing more than Gilbert's syndrome.
Bilirubin is one of the important bile pigments, an intermediate decomposition product of hemoglobin, which is involved in the transport of oxygen.
An increase in the level of bilirubin (by 80-100 μmol / l), a significant predominance of non-blood-related (indirect) bilirubin leads to periodic manifestations of jaundice (mucous membranes, sclera, skin). At the same time, liver tests, other indicators remain normal. In men, Gilbert's syndrome is 2-3 times more common than in women. For the first time it can appear at the age of three to thirteen years. Often an illness accompanies a person throughout his life.
Gilbert's syndrome includes fermentopathic benign hyperbilirubinemia (pigmented hepatosis). As a rule, they arise due to the indirect (unconjugated) fraction of bile pigments. This is due to genetic defects in the liver. The course is benign - gross changes in the liver, severe hemolysis does not occur.
Symptoms of Gilbert's syndrome
Gilbert's syndrome does not have pronounced symptoms, proceeds with minimal manifestations. Some doctors do not consider the syndrome as a disease, but attribute it to the physiological characteristics of the body.
The only manifestation in most cases is moderate jaundice with staining of the mucous membranes, skin, eye sclera. Other symptoms are either mild or not at all.
Possible minimal neurological symptoms:
- weakness;
- dizziness;
- fatigue;
- sleep disturbances;
- insomnia.
Even more rare symptoms in Gilbert's syndrome are digestive disorders (dyspepsia):
- lack or loss of appetite;
- bitter belching after eating;
- heartburn;
- bitter taste in the oral cavity; rarely vomiting, nausea;
- feeling of heaviness, fullness of the stomach;
- stool disorders (constipation or diarrhea);
- pain in the right hypochondrium of a dull aching character. May occur with errors in the diet, after the abuse of spicy as well as fatty foods;
- liver enlargement may be observed.
Benign hyperbilirubinemia: treatment
If there are no concomitant diseases of the gastrointestinal tract, during the period of remission, the doctor prescribes a diet No. 15. In acute periods, if there are concomitant diseases of the gallbladder, diet No. 5 is prescribed. Special liver therapy for patients is not required.
Vitamin therapy, the use of choleretic drugs is useful in these cases. Patients do not need special spa treatments either.
Electrical or thermal procedures in the liver area will not only not be beneficial, but will also have a harmful effect. The prognosis of the disease is quite favorable. Patients remain operational, but a reduction in nervous as well as physical activity is necessary.
Gilbert's benign hyperbilirubinemia also does not require special treatment. Patients should follow certain recommendations so as not to exacerbate the manifestations of the disease.
Table number 5.
- It is allowed to use: weak tea, compote, low-fat cottage cheese, wheat bread, soup with vegetable broths, low-fat beef, crumbly cereals, chicken, non-acid fruits.
- It is forbidden to eat: lard, fresh baking, spinach, sorrel, fatty meat, mustard, fatty fish, ice cream, pepper, alcohol, black coffee.
- Compliance with the regime - heavy physical exertion is completely eliminated. The use of prescribed medications: anticonvulsants, antibiotics, anabolic steroids, if necessary, are analogues of sex hormones that are used to treat hormonal malfunctions, as well as athletes to improve athletic performance.
- Stop smoking, drinking alcohol completely.
If jaundice symptoms occur, the doctor may prescribe a number of medications.
- A group of barbiturates - antiepileptic drugs effectively reduce bilirubin levels.
- Cholagogue.
- Means that affect the function of the gallbladder, as well as its ducts. Prevent the development of cholelithiasis, cholecystitis.
- Hepatoprotectors (protective agents, protect liver cells from damage).
- Enterosorbents. Means that enhance the excretion of bilirubin from the intestine.
- Digestive enzymes are prescribed for dyspeptic disorders (vomiting, nausea, gas formation) - help digestion.
- Phototherapy - exposure to light from blue lamps leads to the destruction of fixed bilirubin in the tissues. To prevent burns to the eyes, their protection is necessary.
When these recommendations are followed, patients have a normal level of bilirubin, the symptoms of the disease appear much less frequently.