Differentials
Rotor's syndrome
SIGNS / SYMPTOMS
Clinically indistinguishable.
INVESTIGATIONS
Urinary coproporphyrin: 2.5 to 5 times higher than normal, but isomer I <80% of total.
Liver biopsy: pigmentation not seen.
Oral cholecystograms show normal gallbladder opacification. However, it is not clinically necessary to distinguish between Rotor’s syndrome and DJS because both are benign conditions and management requires patient education and reassurance only.[30]
Gilbert's syndrome
SIGNS / SYMPTOMS
Presents with jaundice. Very rare before puberty.
INVESTIGATIONS
Unconjugated hyperbilirubinaemia
Total bilirubin usually <68 micromol/L (<4 mg/dL) and invariably <102 micromol/L (<6 mg/dL).
Liver biopsy: usually normal; may have accumulation of a lipofuscin-like pigment around the terminal hepatic venules.
Crigler-Najjar syndrome (type I and II)
SIGNS / SYMPTOMS
Type I usually diagnosed during the neonatal period, and jaundice is more severe. Type II may present during infancy.
INVESTIGATIONS
Unconjugated hyperbilirubinaemia
Total bilirubin level of 290 to 855 micromol/L (17 to 50 mg/dL) in type I and 102 to 376 micromol/L (6 to 22 mg/dL) in type II.
Cholecystitis
SIGNS / SYMPTOMS
Right upper quadrant (RUQ) tenderness, positive Murphy sign, may have RUQ mass. Previous episodes of similar pain often noted.
INVESTIGATIONS
Liver function tests: elevated alkaline phosphatase, gamma-glutamyl transferase, and bilirubin.
Ultrasound of the gallbladder: pericholecystic fluid, distended gallbladder, thickened gallbladder wall, gallstones.
Extrahepatic biliary obstruction
SIGNS / SYMPTOMS
Pruritus and pale stools.
INVESTIGATIONS
Elevated alkaline phosphatase.
Elevated gamma-galactosyl transferase.
CT of the biliary tree will demonstrate level and nature of obstruction.
Familial intrahepatic cholestasis
SIGNS / SYMPTOMS
Pruritus, hepatosplenomegaly, diagnosis usually at <1 year of age, dark urine, pale stools.
INVESTIGATIONS
Elevated bile acids.
Elevation of serum alkaline phosphatase.
Elevation of faecal fat.
Liver biopsy: characteristic appearance of hepatocellular cholestasis with giant cells with or without fibrosis.
Benign recurrent intrahepatic cholestasis
SIGNS / SYMPTOMS
Recurrent attacks of cholestasis lasting days to months. Each episode preceded by intense pruritus, malaise, and sometimes diarrhoea. Pale stools often seen. Between episodes, patients are asymptomatic.
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