Have you ever paid attention to your bilirubin levels when you get blood test results? These values reflect liver function, biliary drainage, and metabolism. In a healthy person they always fall within the normal range. An elevation in any one of them often triggers panic in the patient—and sometimes in the doctor—because it can signal jaundice, which itself may indicate or complicate serious illness. Other diagnostic tests and procedures usually help rule out alarming causes, so doctors frequently “sound the alarm” and order further workups whenever bilirubin is high.
But when elevated bilirubin is the only abnormal finding—while all other lab tests and imaging studies remain within physiological norms—the question arises: could this be Gilbert’s syndrome? And if so, what is it?
Gilbert’s syndrome is a hereditary (genetic) disorder—also called primary hyperbilirubinemia—characterized by a mild inability of the liver to conjugate bilirubin, leading to temporary rises in blood levels. Clinically it manifests as barely noticeable yellowing of the skin and mucous membranes, which is why it often goes undiagnosed. Think of Gilbert’s syndrome as the body’s Achilles’ heel: under stress the bilirubin level spikes. Many patients live their entire lives without ever suspecting they carry this genetic trait.
Bilirubin is more than just a yellow pigment; at high concentrations it acts like an endogenous toxin, impairing brain function and sometimes revealing itself only as an incidental finding—often first detected in adulthood or later life, as I’ve seen in several surgical consultations.
Manifestations of Gilbert’s syndrome are non-specific and can involve the nervous system (fatigue, lethargy, irritability, sleep disturbances), the gastrointestinal tract (right-upper-quadrant discomfort, bloating, nausea, bitter taste), and the skin (itching, dryness, intermittent rashes). Patients may bounce from one specialist to another without relief, and sometimes receive unnecessary treatments.
Diagnosis rests on measuring fasting venous bilirubin. Genetic testing for mutations in the UGT1A1 gene (which encodes the bilirubin-conjugating enzyme glucuronosyltransferase) can confirm susceptibility. A stress test—multiple bilirubin measurements over a day of controlled fasting—can further illustrate how bilirubin reacts to physiological stress.
According to current guidelines, no specific therapy is required for Gilbert’s syndrome. Prevention and management focus on consistent sleep, rest, and meal schedules—because fasting is a prime trigger. I advise patients to set alarms for regular snacks, which often keeps bilirubin spikes at bay.
When bilirubin does rise, enterosorbents (taken alone with water, two hours before and after meals or other medications) can help bind excess bilirubin. In more pronounced cases, a short course (no more than 10 days) of phenobarbital before bedtime may be prescribed, since it induces the conjugating enzyme and lowers bilirubin levels. Detoxification therapy (for example, Reosorbilact infusions) can be effective even in a brief ambulatory regimen. Ursodeoxycholic acid at 250–300 mg/day is also used prophylactically, although evidence for other hepatoprotectors remains limited.
Because Gilbert’s syndrome follows an autosomal-recessive pattern, a child of one affected parent has about a 50 percent chance of inheriting it. Partners should be informed when planning a family, and pregnant women with the syndrome should achieve normal bilirubin levels before conception and monitor them monthly through pregnancy—especially if any yellowing appears.
Factors that can provoke an exacerbation include certain medications, alcohol, emotional or physical stress, surgery, infections, and intense exercise. Avoiding these triggers and maintaining a balanced lifestyle are the mainstays of prevention.
— Alla Korolevska