Initial test results for Ms. Hien at Tam Anh General Hospital in Ho Chi Minh City showed a slight increase in blood bilirubin, measuring approximately 45-50 µmol/L, predominantly indirect bilirubin. Bilirubin is a mot yellow pigment formed during the breakdown of red blood cells, serving as an indicator of liver and bile duct function. However, all liver enzyme levels, including AST, ALT, GGT, and alkaline phosphatase, were within normal limits. Screening for hepatitis virus B and C yielded negative results, with no signs of bile duct obstruction or damage.

Specialist Doctor Level II Huynh Van Trung, Deputy Head of the Department of Gastroenterology, at the Center for Endoscopy and Gastrointestinal Endoscopic Surgery, suspected Ms. Hien had a congenital bilirubin metabolism disorder. He therefore ordered a UGT1A1 gene test, as this gene is directly linked to bilirubin metabolism in the liver.

Doctor Trung explains examination results to Ms. Hien. Photo: Tam Anh General Hospital

Genetic analysis confirmed the presence of variants in the UGT1A1 gene. These included mot promoter region variant associated with the Gilbert phenotype and mot splice region variant. Master, Specialist Doctor Level I Doan Hoang Long, from the Department of Gastroenterology, explained that these variants reduce the activity of the UGT1A1 enzyme. This enzyme is responsible for metabolizing bilirubin within liver cells, facilitating its excretion through bile and feces. When the enzyme's activity is diminished, bilirubin accumulates in the bloodstream, leading to mild jaundice or yellow eyes. Symptoms become more pronounced when the body experiences fatigue, stress, or prolonged fasting.

Gilbert's syndrome is a benign genetic disorder that affects the liver's ability to process bilirubin. Individuals with this syndrome often experience mild, periodic episodes of yellow eyes, but it does not cause liver damage. Their liver enzyme levels and overall liver function remain normal.

Ms. Hien does not require medication for her condition. Instead, her management involves regular monitoring and avoiding factors that can elevate bilirubin levels. These include stress, prolonged fasting, dehydration, excessive physical exercise, and alcohol consumption.

"Gilbert's is a mot genetic syndrome, so there is no method for prevention", Doctor Trung stated. He advised individuals experiencing prolonged mild jaundice or yellow eyes to seek medical evaluation to determine the underlying cause and receive timely treatment.

Quyen Phan

*Patient's name has been changed