CLINICAL DIAGNOSTIC MANUAL
Bilirubin is a yellow pigment produced by the breakdown of red blood cells in the liver. Normally, bilirubin is processed by the liver and excreted in bile.
When there is an increase in bilirubin levels in the urine or plasma, it may indicate an issue with bilirubin metabolism, either at the hepatic level, in the bile ducts, or due to increased hemolysis.
This increase can manifest clinically through various symptoms and signs, with jaundice (yellowing of the skin and mucous membranes) being one of the most noticeable.
Pathology | Clinical Symptoms and Signs | Suspected Diagnosis | Confirmatory Diagnosis |
|---|---|---|---|
Hepatocellular jaundice | Jaundice, dark urine, pale stools, pruritus, fatigue, general malaise | Blood tests (elevated transaminases), history of liver diseases | Liver biopsy, CT/MRI imaging, hepatitis serologies, liver biopsy |
Obstructive jaundice | Jaundice, dark urine, pale stools, pruritus, right upper quadrant pain, weight loss | Blood tests (elevated alkaline phosphatase and GGT), abdominal ultrasound | Endoscopic retrograde cholangiopancreatography (ERCP), CT/MRI imaging, biopsy if neoplasia is suspected |
Hemolytic anemia | Jaundice, fatigue, weakness, pallor, splenomegaly, dark urine | Blood tests (elevated indirect bilirubin, high LDH, low haptoglobin) | Coombs test, peripheral blood smear, genetic testing if a hereditary disorder is suspected |
Gilbert’s syndrome | Mild intermittent jaundice, generally asymptomatic | Blood tests (elevated indirect bilirubin), family history | Genetic testing, exclusion of other causes of hyperbilirubinemia |
Crigler-Najjar syndrome | Persistent neonatal jaundice, very high levels of unconjugated bilirubin | Blood tests (elevated indirect bilirubin) | Genetic testing, family history |
Dubin-Johnson syndrome | Jaundice, generally asymptomatic | Blood tests (elevated conjugated bilirubin), family history | Genetic testing, liver function tests |
Rotor syndrome | Mild jaundice, generally asymptomatic | Blood tests (elevated conjugated bilirubin), family history | Genetic testing, liver function tests |
Liver tumours | Jaundice, weight loss, abdominal pain, hepatomegaly, fatigue | Blood tests (elevated tumour markers, abnormal liver function) | Liver biopsy, CT/MRI imaging |
Acute liver failure | Jaundice, hepatic encephalopathy, ascites, bleeding, fatigue, nausea, vomiting | Blood tests (elevated transaminases, bilirubin, prolonged coagulation times) | Detailed medical history, viral serologies, liver function tests, CT/MRI imaging |
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