UGT1A1 polymorphism (*28[6TA/7TA]) Morbus Gilbert-Meulengracht

EDTA Blood, 1ml

or oral mucosa (eSwab)

The clinical picture of Gilbert-Meulengracht syndrome (GS) is characterised by intermittent hyperbilirubinaemia. It occurs in adolescence or adulthood. The episodes are often triggered by external influences such as stressful situations, fasting, infections or vomiting during pregnancy. The result is a mild jaundice with possible mild general symptoms (fatigue, abdominal discomfort). The laboratory shows an isolated (unconjugated) hyperbilirubinaemia; the activities of GGT, ASAT, ALAT and alkaline phosphatase are typically normal.
The cause is a genetically determined reduction in bilirubin clearance due to a reduced activity of the bilirubin-UDP-glucuronyltransferase UGT1 (UGT1A1*28). The mutation can be determined by molecular biology. With the detection of the TA 7/7 genotype, the suspected clinical diagnosis of Gilbert-Meulengracht syndrome is confirmed by molecular genetics. GS is a benign affection that does not require monitoring or treatment. Those affected have a normal life expectancy. The diagnosis primarily serves to reassure the patient and helps to avoid further, possibly invasive, investigations.