Gilbert Syndrome

 'Gilbert-Meulengracht syndrome'  ( Gilbert's disease , juvenile jaundice, intermittent hyperbilirubinemia) is benign AR hereditary unconjugated Juvenile hyperbilirubinemia Hyperbilirubinemia with intermittent manifestations of  jaundice. It is characterized by a chronic small increase in serum unconjugated bilirubin in the absence of bilirubin in urine i, without hyperhemolysis, and without other signs of liver disease. It is usually diagnosed in adolescents, but manifests throughout life. It is more common in men than in women.

A typical manifestation is an '' 'increase in bilirubin levels in' 'starvation, mental strain, physical exertion, intercurrent infection, surgery, injuries, alcohol excess, in premenstrual women. In contrast, bilirubin levels are reduced by excessive energy intake and by enzymatic inducers. type = article surname1 = Brodanová | name1 = Marie | article = The most common metabolic liver diseases in a patient  'in adolescence' . Pediatrics for practice Journal = Pediatrics for Practice url = http: //www.pediatriepropraxi.cz/artkey/ped-200204-0006.php | year = 2002 | year = 3 | number = 4 | pages = 175-179 | issn = 1803-5264}}

Clinical manifestations are defined as "mild isolated unconjugated hyperbilirubinemia", usually up to 80 μmol / l, rarely up to 100 μmol / l, without overt hemolysis and without evidence of other hepatic impairment (except glucuronidation). The liver parenchyma is free of macroscopic or microscopic changes.

 'Incidence' : 3% of population (some sources state 5-10%)

Etiology
This is a genetically determined  'bilirubin glucuronization defect' , due to reduced activity of the hepatic glucuronyltransferase UGTA1 (a disorder of the TATAA box of the promoter region of the uridine diphosphoglucuronosyltransferase gene, reduced expression, AR, 10–12% of the population).

Clinical picture
Most people have no problems at all, some patients suffer from "non-specific symptoms" - digestive problems, weakness, increased fatigue, poor ability to concentrate - the problems are not correlated with the level of hyperbilirubinemia.

Diagnostics
The diagnosis is based on careful anamnesis, physical examination, and the fact that individuals are virtually asymptomatic. In the laboratory, we repeatedly demonstrate fluctuating, isolated, unconjugated hyperbilirubinemia. The values ​​of bilirubin u are usually between 30-50 μmol / l
 * Hyperbilirubinemia should be detected repeatedly - at least 3 times.
 * Only the bilirubin values ​​of u and  'no other laboratory findings'  change during follow-up.
 * About a third of patients have periods when bilirubin is perfectly normal.
 * Ascension is often associated with infections, a fatty diet, starvation, alcohol consumption, physical exertion or premenstrual tension.

During diagnosis, we must rule out hemolysis, ie there must be a normal blood count, including reticulocytes. In addition, liver tests are normal, negative HBsAg and anti  HCV. Biopsy is not usually beneficial.

The fasting and phenobarbital test is no longer used today due to its non-specificity.
 *  'starvation test' :
 * after 2 days we reduce the energy supply to 400 kcal / day = 1680 J / day
 * bilirubin levels increase (usually two to three times), and only unconjugated fractions
 *  'phenobarbital test' :
 * administration of 200 mg phenobarbital / day
 * serum bilirubin level decreases (enzyme induction principle)

Diff. dg between Gilbert's syndrome and other hepatocyte involvement

 * history - infectious mononucleosis, contact with hepatitis
 * serology, liver tests
 * presence of hepatosplenomegaly
 *  'post-infection conditions have intermittently elevated conjugated bilirubin
 * genetic testing
 * it is also necessary to distinguish Wilson's disease, which also has neurological symptoms, copper in the urine, when thinking about this diagnosis we do a liver biopsy immediately - we find  steatosis, a lot of copper in the liver dry, molecular diagnosis - affects about 90%)
 * defect α 1 -antitrypsin, which in children does not manifest a typical emphysema, rather repeated respiratory infections, here is a very yielding molecular diagnosis)

Examination algorithm

 * 1) blood count + reticulocytes
 * 2) serum biochemistry
 * 3) liver function - they are mainly reflected by the level of proteosynthesis - Quick, INR, aPTT, mainly sensitive cholinesterase, which increases even in toxic liver disease, and prealbumin → but they are also [[acute phase proteins] ]
 * 4) immunology - may be chronic jaundice,  Ig, CIK, ANAb
 * 5) ceruloplasmin,  α 1 -antitrypsin, haptoglobin (marker of hemolysis)
 * 6) serology - VHA, VHB, VHC, EBV, CMV, HSV,  toxoplasma
 * 7) stools for parasites
 * 8) sono liver, spleen, gallbladder

Diff. dg isolated unconjugated hepatic type hyperbilirubinemia

 * chronic hepatitis low score - without histology difficult to distinguish, often an increase in aminotransferases
 * Crigler-Najjar syndrome - AR hereditary
 * type I - severe hyperbilirubinemia with danger nuclear jaundice
 * type II - mild hyperbilirubinemia
 * posthepatic bilirubinemia

Therapy
No treatment is necessary. We must warn the patient that this is a benign condition with an excellent prognosis. In addition, the patient must follow a light liver diet.

Related Articles

 * Jaundice
 * Juvenile hyperbilirubinemia
 * Hyperbilirubinemia of newborns and infants