CLINICAL DIAGNOSTIC MANUAL
Hepatic jaundice due to a congenital enzymatic defect is a condition where the accumulation of bilirubin in the body results from inherited enzymatic defects that affect the liver’s ability to metabolise and excrete bilirubin.
These defects can vary in severity and lead to different levels of hyperbilirubinemia. The two main conditions associated with these enzymatic defects are Gilbert’s syndrome and Crigler-Najjar syndrome.
Pathology | Symptoms and Clinical Signs | Suspected Diagnosis | Confirmatory Diagnosis |
|---|---|---|---|
Gilbert’s syndrome | Mild and fluctuating jaundice, generally asymptomatic, may worsen with stress, exercise, or fasting | Family history, intermittent jaundice, physical examination | Serum bilirubin levels (elevated unconjugated bilirubin), genetic testing |
Crigler-Najjar syndrome | Persistent jaundice from birth, severe jaundice, neurological symptoms in type I, mild to moderate jaundice in type II | Family history, persistent jaundice, physical examination | Serum bilirubin levels, enzymatic activity test, genetic testing |
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