What is Gilbert’s syndrome? How is it manifested? What tests should be performed to diagnose Gilbert’s syndrome?
What is Gilbert’s syndrome?
It is functional hyperbilirubinemia, which means that it manifests as increased levels of bilirubin in the patient’s body. This syndrome is genetically determined, therefore it is transmitted from parents to children. It is estimated that Gilbert’s syndrome occurs in 5-10% of the population, 1/3 of patients do not know that they have functional hyperbilirubinemia. Gilbert’s syndrome is an autosomal recessive disease. As a result of the mutation of the uridine-diphospho-glucoronyl transferase gene, the ability to conjugate bilirubin with glucuronic acid in the hepatocyte (liver cells) is reduced.
Due to the periodic increase in total bilirubin in the blood of patients with this syndrome, the main symptom is mild jaundice (yellowing of the skin, sclera) and mild fatigue. However, this syndrome is often asymptomatic, which is why so many people do not know about its occurrence. Symptoms most often appear after intense physical exertion, alcohol consumption and stress.
Gilbert’s syndrome – laboratory tests
On laboratory tests, people with this syndrome have elevated serum levels of total bilirubin. Most often the values are less than 5 mg / dL (the increase may be transient). Other hepatic parameters (direct bilirubin, alanine aminotransferase, aspartate aminotransferase, gamma-glutamyltranspeptidase, alkaline phosphatase, bile acids) remain within the reference ranges.
The diagnosis of Gilbert’s is made on the basis of clinical symptoms and molecular (genetic) testing. Molecular examination – the current AG-T1A1 gene mutation. However, it should be remembered that due to various mutations in the gene that are not detected in standard tests, it is possible for Gilbert’s syndrome to occur with a genetic test showing no mutation. Due to the fact that Gilbert’s occurs in a large part of the population, if it is confirmed in a given patient, coexistence of Gilbert’s syndrome with other liver diseases should also be excluded.
Rekomendacje postępowania u chorych z zaburzeniami czynności wątroby i kamicą dróg żółciowych dla lekarzy POZ, Marek Hartleb, Krzysztof Simon, Michał Lipiński, Jarosław Drobnik, Jarosław Woroń, Grażyna Rydzewska, Agnieszka Mastalerz-Miga, Lekarz POZ 4/2017
Z. Gilberta – standard diagnostyczno-terapeutyczny, Sabina Więcek, Irena Jankowska, Jarosław Kwiecień, Anna Liberek, Standardy medyczne 2019 T.16
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