Gilbert's syndrome

Crohn's ( Gilbert ) Meulengracht, Meulengracht 's disease, Gilbert ( Meulengracht ) syndrome or jaundice intermittens juvenilis is characterized by a slight increase in indirect bilirubin in the blood that occurs without increased hemolysis or underlying liver disease and has no active disease value. There are other familiar Hyperbilirubinämiesyndrome.

Frequency

Crohn Meulengracht is widespread. The prevalence ( frequency of occurrence ) is more than eight percent of the population, where men are affected more often than women with reported ratios of 1.5:1 to about 7:1.

Cause

The cause of the metabolic disorder is found in the process of hemoglobin breakdown: The blood cells are replaced after about 120 days. The red blood color, which hemoglobin is degraded in the bone marrow, spleen and liver in several steps and converted to a water-soluble form.

Ankylosing - Meulengracht patients the activity of UDP - glucuronyl transferase is reduced to about 30 percent of a healthy person and thus makes the formation of conjugated bilirubin. The consequence is an increased bilirubin serum levels ( "indirect " levels). For a more pronounced decrease in enzyme activity ( 0 to 10%) Speak of the Crigler- Najjar syndrome.

Genetics

Crohn Meulengracht is a 70 - to 75 - percent reduction triggered the activity of the enzyme UDP - glucuronosyltransferase (UDP - GT1 -A1). The gene coding for UDP - GT1 A1 ( UGT1A1 ), usually has a promoter TATA box that contains the allele A ( TA6 ) TAA. The disease is usually associated with the homozygous A ( TA7 ) TAA alleles. The polymorphism of the alleles is referred to as UGT1A1 * 28. In 94 percent of the cases of other enzymes of the family of glucuronosyl additionally affected, such as UDP GT1 A6 ( about 50% of inactivity), and UDP - GT1 A7 ( about 83% of inactivity). Because of the impact on the drug and bilirubin on the one hand and the heritability on the other hand, Crohn Meulengracht can be considered as congenital metabolic disease.

Crohn Meulengracht is inherited as an autosomal recessive trait.

Clinical manifestations

Patients are generally asymptomatic. Uncharacteristic symptoms such as fatigue does not correlate with bilirubin. The blood count is normal. On fasting, the bilirubin continues to rise, which may lead to slightly yellowish eyes.

The glucuronidation of xenobiotics appears to be normal in Crohn's Meulengracht. The principal exception is the incompatibility of the chemotherapeutic agent irinotecan. Some studies also take a different processing of some medications, such as acetaminophen, to. Other studies doubt that and assume that Crohn Meulengracht does not lead to clinical complications when using this medication. The use of the HIV drugs indinavir and atazanavir may result in conjunction with Crohn's Meulengracht to increased bilirubin, as they block the UGTA1 gene.

Diagnosis and consequences

Crohn Meulengracht can be uniquely determined by nicotinic acid or fasting test. A liver biopsy is now no longer necessary. A more secure way of diagnosis is a molecular genetic analysis.

In health surveys usually also bilirubin levels are detected ( urine and blood). In Crohn's Meulengracht Values, which are about twice as high as the threshold find.

Recent work speculate that the chronically elevated bilirubin could possibly protect against atherosclerosis. This may be true of colorectal cancer. A study from the year 2011 comes to comparable results and finds a reduction of lung diseases and an overall decreased mortality rate for people with low elevated bilirubin.

Therapy

There is no indication for treatment. The avoidance of paracetamol for pain therapy is recommended. The clinical manifestations are without clinical significance, but they can be unsettling at first onset for those affected. Therefore, a detailed explanation is therapeutically important.

History

Crohn Meulengracht is named after the Dane Einar Meulengracht, which was instrumental in their exploration. Another is named after Augustin Nicolas Gilbert (1858-1927), who has already conducted research in 1900, along with Pierre Lereboullet ( 1874-1944 ) from the disease.

The historical name suffix " juvenilis " refers possibly to the possibility that people could possibly be more affected only at a young age of the disease. This is true but rarely or not at all, since there are even patients in whom disease was first diagnosed with Meulengracht over 40 and this is a congenital and thus lifelong genetic disposition.

More familiar Hyperbilirubinämiesyndrome

  • Crigler- Najjar syndrome
  • Dubin -Johnson syndrome
  • Rotor syndrome
  • Summerskill - Walshe - Tygstrup syndrome
Biliverdin Biliverdin reductase Albumin Microsome Promoter (genetics) TATA-Box Dubin–Johnson syndrome Digital Object Identifier The Lancet
264724
de