Yellowing of the mucous membranes, eye sclera, and skin should alert any person. Everyone knows that such symptoms indicate certain disorders 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, jaundice appears. Benign hyperbilirubinemia also has similar symptoms. In the article, we will analyze in more detail what kind of disease it is, what are its causes and methods of treatment.
Definition 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 decay due to involutive changes in the cells of the liver, spleen, connective tissues and bone marrow.
Benign hyperbilirubinemia is an independent disease that includeshepatosis pigmentosa, familial cholemia simplex, intermittent juvenile jaundice, non-hemolytic familial jaundice, constitutional liver dysfunction, retention jaundice and functional hyperbilirubinemia. The disease is manifested by intermittent or chronic jaundice, obvious violations of the liver function and its structure without pronounced violations. At the same time, 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. Gilbert's syndromes, Crigler's syndromes, other disorders are coded accordingly - Dubin-Johnson syndromes and Rotor syndromes, an unspecified disorder of bilirubin metabolism.
Causes of occurrence
Benign hyperbilirubinemia in adults in most cases is a disease that has a family character, they are transmitted by dominant type. This is confirmed by medical practice.
There is post-hepatitis 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 metabolism of bilirubin. In serum, this substance increases, or there is a violation of its capture or transfer into liver cells from plasma.
Such a state is also possible whenthere is a violation of the binding processes of bilirubin and glucuropic acid, this is explained by a permanent or temporary deficiency of such an enzyme as glucuronyltransferase. In Rotor and Dubin-Johnson syndromes, serum bilirubin is elevated due to impaired excretion of the pigment into the bile ducts through the membranes of the hepatocyte.
Provoking 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 disease 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 rare cases they are permanent, not passing.
Increased jaundice can be triggered by the following factors:
- pronounced physical or nervous fatigue;
- exacerbation of infections, lesions of the biliary tract;
- drug resistance;
- colds;
- various surgical interventions;
- drinking alcohol.
Symptoms of disease
Besides the fact that the sclera and skin turn yellowish, patients feel heaviness in the right hypochondrium. There arecases when dyspeptic symptoms are disturbing are nausea, vomiting, stool disorders, lack of appetite, increased gas formation in the intestines.
Manifestations of hyperbilirubinemia can lead to the appearance of asthenovegetative disorders, which manifest as depression, weakness, and rapid fatigue. When examining, first of all, the doctor pays attention to the yellowed sclera and the dull yellow tint of the patient's skin. 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 the size of the organ, the liver becomes soft, the patient experiences pain during palpation. The spleen does not increase in size. Exceptions are cases when benign hyperbilirubinemia occurs as a result of hepatitis. Posthepatitis hyperbilirubinemia can also occur after an infectious disease - mononucleosis.
Benign Hyperbilirubinemia Syndrome
Benign hyperbilirubinemia in medical practice includes seven congenital syndromes:
- Crigler-Najjar syndromes 1 and 2 types;
- Dubin-Johnson Syndromes;
- Gilbert's syndromes;
- Rotor Syndromes;
- Byler's disease (rare);
- Lucy-Driscoll syndrome (rare);
- Family benign age-related cholestasis - benign hyperbilirubinemia (rare).
All of the above syndromes occur indue to impaired bilirubin metabolism, if the level of unconjugated bilirubin in the blood, which accumulates in tissues, is increased. Conjugation of bilirubin plays a huge role in the body, highly toxic bilirubin is converted into low-toxic, into diglucoronide - a soluble compound (conjugated bilirubin). The free form of bilirubin easily penetrates elastic tissues, lingers in mucous membranes, skin, and on the walls of blood vessels, while causing jaundice.
Crigler-Najjar Syndrome
American pediatricians V. Nayyar and J. Krigler identified a new syndrome back in 1952 and described it in detail. It was named Crigler-Najjar type 1 syndrome. This congenital pathology has an autosomal recensive type of inheritance. The development of the syndrome occurs immediately in the first hours after the birth of the child. These symptoms are equally common in both girls and boys.
The pathogenesis of the disease is due to the complete absence of such an enzyme as UDFGT (the enzyme urndine-5-diphosphate glucuronyltransferase). With type 1 of this syndrome, UDFGT is completely absent, free bilirubin increases sharply, the rates 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) there is a rapid accumulation of pigment, yellow nuclear jaundice develops. Test with cordiamine in the diagnosis of benign hyperbilirubinemia, with phenobarbital - negative.
Bilirubin encephalopathy leads to the development of nystagmus, muscle hypertension, athetosis,opisthotonus, clonic and tonic convulsions. The prognosis of the disease is extremely unfavorable. In the absence of intensive treatment, a lethal outcome is possible already on the first day. The liver does not change at autopsy.
Dubin-Johnson Syndrome
Dubin-Johnson Benign Hyperbilirubinemia Syndrome was first described 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 into the 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 the bile is disturbed, there is a reflux of bilirubin into the blood from the hepatocyte. This is confirmed by the peak concentration in the blood of the dye after two hours when conducting tests using bromsulfalein.
Morphological characteristic - chocolate-colored liver, where the accumulation of coarse granular pigment is high. Manifestations of the syndrome: persistent jaundice, recurrent skin itching, pain on the right side in the hypochondrium, asthenic symptoms, dyspepsia, enlargement of the spleen and liver. The disease can begin at any age. There is a risk after prolonged use of hormonal contraceptives, as well as during pregnancy.
Diagnose the disease on the basis of bromsulfaleicsamples, with cholecystography with delayed excretion of a contrast agent into the bile, in the absence of contrast in the gallbladder. Cordiamin is not used in the diagnosis of benign hyperbilirubinemia in this case.
Total bilirubin does not exceed 100 µmol/L, free and conjugated bilirubin has a ratio of 50/50.
Treatment for this syndrome has not been developed. The syndrome does not affect life expectancy, but the quality of life with this pathology worsens.
Benign hyperbilirubinemia - Gilbert's syndrome
This hereditary disease is the most common, we will tell you more about it. The disease is transmitted from parents to children, is associated with a defect in the gene that is involved in the metabolism 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 product of the breakdown of hemoglobin, which is involved in the transport of oxygen.
Increase in the level of bilirubin (by 80-100 µmol / l), a significant predominance of bilirubin not associated with blood proteins (indirect) 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. It may first appear between the ages of three and thirteen. Often, the disease accompanies a person all his life. Gilbert's syndrome includes fermentopathic benign hyperbilirubinemia (pigmented hepatoses). They arise, as a rule, due to the indirect (non-conjugated) fraction of bile pigments. This is due to genetic defects in the liver. The course is benign - gross changes in the liver, pronounced hemolysis does not occur.
Symptoms of Gilbert's syndrome
Gilbert's syndrome has no pronounced symptoms, proceeds with minimal manifestations. Some doctors do not consider the syndrome as a disease, but refer it to the physiological characteristics of the body.
The only manifestation in most cases are moderate indicators of jaundice with staining of the mucous membranes, skin, eye sclera. Other symptoms are either mild or non-existent. Possibly minimal neurological symptoms:
- weakness;
- dizziness;
- fatigue;
- sleep disorders;
- insomnia.
Even more rare symptoms of Gilbert's syndrome are digestive disorders (dyspepsia):
- lack or loss of appetite;
- bitter burping after eating;
- heartburn;
- bitter taste in mouth; rarely vomiting, nausea;
- feeling of heaviness, stomach fullness;
- 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;
- may experience liver enlargement.
Benign hyperbilirubinemia treatment
If there are no concomitant diseases of the gastrointestinal tract, during the period of remission, the doctor prescribes diet No. 15. In acute periods, if there are concomitant diseases of the gallbladder, diet No. 5 is prescribed. No special hepatic therapy is required for patients.
Useful in these cases, vitamin therapy, the use of choleretic agents. Patients do not need special spa treatments either. Electrical or thermal procedures in the area of the liver will not only not bring any benefit, but will also have a harmful effect. The prognosis of the disease is quite favorable. Patients remain functional, but it is necessary to reduce nervous and physical stress.
Gilbert's benign hyperbilirubinemia also does not require special treatment. Patients should follow some recommendations so as not to exacerbate the manifestations of the disease.
Table 5.
- Allowed for use: weak tea, compote, fat-free cottage cheese, wheat bread, vegetable soup, low-fat beef, crumbly cereals, chicken, non-acid fruits.
- Forbidden to eat: lard, fresh pastry, spinach, sorrel, fatty meat, mustard, fatty fish, ice cream, pepper, alcohol, black coffee.
- Compliance with the regime - heavy physical exertion is completely excluded. The use of prescribed medications: anticonvulsants, antibiotics, anabolic steroids, if necessary - analogues of sexhormones that are used to treat hormonal disruptions, as well as athletes - to improve athletic performance.
- Completely quit smoking, drinking alcohol.
If symptoms of jaundice occur, the doctor may prescribe a number of medications.
- Barbiturate group - antiepileptic drugs effectively reduce bilirubin levels.
- Cholagogues.
- Means that affect the functions of the gallbladder, as well as its ducts. Prevent the development of cholelithiasis, cholecystitis.
- Hepatoprotectors (protective agents, protect liver cells from damage).
- Enterosorbents. Drugs that enhance the excretion of bilirubin from the intestines.
- 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 tissues. Eye protection is essential to prevent eye burns.
When following these recommendations, patients have a normal level of bilirubin, the symptoms of the disease appear much less often.
