Case Study: Persistently Elevated Bilirubin in a 31-Year-Old Male with Health Anxiety

Case at a Glance

A 31-year-old male with a history of health anxiety was incidentally found to have persistently elevated, yet fluctuating, bilirubin levels over a two-year period, leading to a presumptive diagnosis of Gilbert's Syndrome and significant patient concern regarding the need for further investigation.

Patient's Story

The patient, a 31-year-old male, initially presented to his general practitioner (GP) for an unrelated issue—a blood-filled ulcer on his inner lip. Routine bloodwork at this visit revealed an incidental finding of elevated total bilirubin. Over the next two years, repeat testing showed a fluctuating but rising trend in his bilirubin levels. Despite reassurance from his GP that this was consistent with Gilbert's Syndrome (GS), a benign genetic condition, the patient grew increasingly anxious. His concerns were threefold: the diagnosis was made without genetic testing or imaging, his bilirubin levels were steadily increasing, and he had no known family history of the condition.

Initial Assessment

The patient's initial presentation was for an oral lesion. The key finding was an elevated total bilirubin of 27 µmol/L (1.6 mg/dL) on a standard liver function test (LFT). All other liver enzymes, including ALT, AST, and ALP, were within normal limits. The physical examination was unremarkable, with no signs of jaundice (icterus), hepatosplenomegaly, or other stigmata of chronic liver disease. The GP recommended monitoring with repeat blood tests.

The Diagnostic Journey

The patient's bilirubin levels were tracked over a two-year period with the following results:

Year 1, June: Total Bilirubin 27 µmol/L (1.6 mg/dL)
Year 1, October (First test): Total Bilirubin 37 µmol/L (2.2 mg/dL)
Year 1, October (Second test): Total Bilirubin 32 µmol/L (1.9 mg/dL), with a Direct Bilirubin of 11 µmol/L (0.6 mg/dL)
Year 3, February: Total Bilirubin 40 µmol/L (2.3 mg/dL)
Year 3, May: Total Bilirubin 52 µmol/L (3.0 mg/dL)

Following the October results in Year 1, the GP made a working diagnosis of Gilbert's Syndrome. The patient, however, noted that the direct bilirubin fraction in that test was approximately 34% of the total, higher than the typical <20% ratio expected in GS. This finding, combined with the rising trend, fueled his anxiety. After the most recent result of 52 µmol/L, the GP agreed to seek specialist advice from a gastroenterology service. While awaiting this consultation, the patient remained concerned that other potential causes, such as biliary or hemolytic disorders, were being overlooked.

Final Diagnosis

Presumptive Diagnosis: Gilbert's Syndrome.

The clinical picture, characterized by isolated, fluctuating, mild-to-moderate unconjugated hyperbilirubinemia with otherwise normal liver function tests in an asymptomatic young adult, is highly characteristic of Gilbert's Syndrome. The single elevated direct bilirubin fraction was considered clinically insignificant in the absence of other abnormalities. However, to formally exclude other pathologies and address patient concerns, a mild chronic hemolytic process needed to be ruled out.

Treatment Plan

The primary goal shifted from treatment to definitive diagnosis and patient reassurance.

Further Investigations: To confirm the diagnosis and rule out other possibilities, a Full Blood Count (FBC) and a reticulocyte count were ordered to assess for any evidence of hemolysis (red blood cell breakdown). An abdominal ultrasound was also considered as a secondary step to provide reassurance and visually confirm the absence of hepatobiliary disease, although not strictly indicated by the lab profile alone.
Patient Education and Reassurance: The plan included a detailed discussion with the patient about the benign nature of Gilbert's Syndrome. It would be explained that bilirubin levels naturally fluctuate and can be exacerbated by factors such as stress, fasting, dehydration, and intercurrent illness. Reassurance was to be provided that GS is not a progressive disease, does not harm the liver, and requires no specific treatment or long-term monitoring once diagnosed.

Outcome and Follow-up

The patient was scheduled for a follow-up appointment to undergo the recommended blood tests (FBC, reticulocytes) and to discuss the results with his GP. The specialist gastroenterology advice was expected to align with this management plan. The long-term prognosis is excellent. Once hemolysis is formally excluded, the patient can be confidently reassured about the diagnosis of Gilbert's Syndrome, helping to alleviate his health anxiety and prevent unnecessary future medical investigations.