Gilbert syndrome is a benignant genetic shape causing hyperbilirubinemia . It is also known as familial non - hemolytic acrimony and constitutional hepatic dysfunction . It is caused due to mutation in promoter factor for UGT ( uridine diphosphate glucuronyl transferase ) enzyme , which is responsible for metabolism of hematoidin . in general , Gilbert syndrome does not present any symptom , except for modest jaundice ( yellow of eyes and skin ) .
How is Gilbert Syndrome Diagnosed?
In ecumenical , this condition is diagnosed inadvertently on routine blood tests , detected around 20 to 30 long time of historic period . The people brook from this condition are unaware of it until they are diagnose with it , although the condition does not halter their lives . However , mild and extended jaundice is a content of anxiety for some patients and they may essay diagnosis in fear of a knockout liver upset . A confirmed diagnosis of Gilbert syndrome admit :
aesculapian History : A complete aesculapian history of the individual is taken along with preceding aesculapian story ofjaundice , family account of Gilbert syndrome along with medication history .
Physical Examination : The individual is examined thoroughly in the abdomen along with detection ofjaundicein the eyes , tegument and oral mucosa .
fill out roue Count : The first footstep is tell everyday descent count , which is usually normal in event of Gilbert syndrome . CBC is done to govern out any infections that may upgrade white roue cell count . For Gilbert syndrome , reticulocyte enumeration is examined , which on maturation become red blood cellphone . In icterus , the reticulocyte count is elevated due to increased breakdown of crimson blood cell ( haemolytic anemia ) leading to increased production of bilirubin , whereas in Gilbert syndrome they are normal .
Liver Function Test : They are order to check for any liver enzyme abnormality . These admit ALT ( Alanine aminotransferase ) , AST ( Aspartate transaminase ) and lactate dehydrogenase enzymes . If they are all normal and there is an elevation in unconjugated haematoidin , then Gilbert syndrome is suspected . Generally , in Gilbert syndrome pillowcase , the serum bilirubin is found to be less than 6 mg / dl . The hateful values are higher in men than females . Bilirubin levels can fluctuate , they can be normal in some Gilbert syndrome cases , whereas they can be elevated if a individual is fast , ominous , stressed whether physically or emotionally , menstruate ( woman ) , making definitive diagnosis difficult . Nicotinic acid test is intimate for the diagnosis of Gilbert syndrome in which there is a significant rise in unconjugated bilirubin ; however , this examination is non - specific as unconjugated bilirubin can also lift in inveterate liver disease , thus not gain a definitive diagnosis .
Urine trial : uranalysis will show the lower levels of stercobilinogen .
Immunohistochemical Assay : This uses polyclonal antibody against UDP - glucuronosyltransferase enzyme . sully of normal liver with specific dyes shows presence of UGT in all parts of the liver , especially gamy concentration in zone 3 that is responsible for excretion of bile acids . In Gilbert syndrome , the maculation is abject for UGT all over the liver and a faint stain is detect in zone 3 that confirms low levels of UGT .
Liver Biopsy : This involves taking a sample of liver tissue and examining it under a microscope to look for pathological changes in the liver tissue paper . Although , liver biopsy is not required in cases of Gilbert syndrome , it can be contract in vitrine that are unmanageable to name and that require exclusion of other liver conditions .
hereditary Testing : Although Gilbert syndrome is caused due to mutation of gene that is responsible for cipher UGT enzyme , there are no specific genetic tryout to confirm the diagnosis of the condition . Genetic tests looking at the UGT1A1 cistron may be used in labs for confirming the condition ; however , they are not recommend on routine basis .
Differential Diagnosis : Gilbert syndrome can be confused with Crigler - Najjar syndrome case I and typecast II along with Lucey - Driscoll syndrome , so they should be ruled out before making a definitive diagnosis .
Gilbert syndrome is a benignant condition that does not require any discourse or long terminus medical tending . It has been noted that small Cupid’s itch of Phenobarbital thin out bilirubin level to normal , until the drug effect lasts .
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