A 23-year-old male patient chose the SMART REPORT Premium package following a routine blood test. Although he had no significant complaints, he occasionally experienced fatigue.
During the analysis of his laboratory results, the SMART REPORT artificial intelligence identified the possibility of Gilbert syndrome.
Gilbert syndrome is a common, benign inherited genetic condition that affects the metabolism of bilirubin. It is estimated to affect approximately one in every twenty people. The condition tends to run in families and is observed more frequently in men than in women. In most cases, the first symptoms appear during young adulthood.
Bilirubin is produced during the natural breakdown of hemoglobin found in red blood cells. As red blood cells age and are broken down, hemoglobin is converted into bilirubin, which must then be processed and eliminated by the liver.
Under normal circumstances, bilirubin is not water-soluble, so it travels through the bloodstream bound to proteins until it reaches the liver. There, an enzyme called UDP-glucuronosyltransferase (UGT1A1) converts bilirubin into a water-soluble form. In this conjugated state, bilirubin can be eliminated from the body through urine or bile.
In Gilbert syndrome, the activity of this enzyme is genetically reduced, causing bilirubin to be processed more slowly. As a result, unconjugated (indirect) bilirubin may temporarily accumulate in the bloodstream. This does not damage the liver itself, but it may occasionally cause mild jaundice affecting the skin or the whites of the eyes. Fatigue is also a common symptom, and some affected individuals may experience abdominal discomfort.
Bilirubin levels can be influenced by several factors. Fasting, dehydration, prolonged stress, lack of sleep, fever, or intense physical exercise may temporarily increase bilirubin levels, causing symptoms to become more pronounced.
The diagnostic hypothesis was generated based on the Ai|Life SMART REPORT Premium risk assessment. The system compares the patient's laboratory results with hundreds of thousands of validated, anonymized laboratory records and, using multiple mathematical and statistical models, estimates which disease patterns the patient's results most closely resemble.
The purpose of SMART REPORT is not to establish a diagnosis, but to support the early identification of health risks so that patients can receive timely specialist evaluation when appropriate.
Because the SMART REPORT Premium package identified a potential risk of a rare disease, the patient was offered a complimentary specialist consultation, which is included in the Premium package.
During the consultation, the specialist reviewed the patient's laboratory results, previous medical history, and lifestyle. It became apparent that elevated bilirubin levels had already been detected on several previous occasions. Based on the overall laboratory findings and the available clinical information, the likelihood of Gilbert syndrome was considered well-founded.
The specialist recommended a liver-friendly lifestyle and explained that although Gilbert syndrome is not considered a liver disease, it is advisable to avoid factors that may temporarily increase bilirubin levels.
Although Gilbert syndrome is a benign condition, knowing the diagnosis can be beneficial in many situations.
Persistently elevated bilirubin levels often lead to further investigations because similar laboratory findings may also be caused by various liver or biliary tract diseases. However, once Gilbert syndrome has been identified as the underlying cause, future laboratory results become easier to interpret, and unnecessary concern or repeated diagnostic testing can often be avoided.
The diagnosis is also important because the metabolism of certain medications and chemical substances may be altered in individuals with Gilbert syndrome. Some drugs—such as medications containing paracetamol (acetaminophen)—as well as regular alcohol consumption may place additional strain on the liver. Therefore, patients should consult their physician before using such medications or consuming alcohol regularly.
Innovation
