HYPERBILIRUBINEMIAS

Depending on the nature of the bilirubin elevated, the condition may be grouped into:-

→ conjugated or Unconjugated  hyperbilirubinemia.

A → Congenital  Hyperbilirubinemias

They result from abnormal uptake, conjugation or excretion of bilirubin due to inherited defects such as

Crigler-Najjar Syndrome

• The defect is due to conjugation, there is severe deficiency of UDP glucuronyl  transferase. The disease is often fatal and the children die before the age of 2.
• Unconjugated bilirubin level increases to more than 20mg/dl, and hence kernicterus results.
• Bilirubin level  in blood exceeds 20 mg/dl in Crigler-Najjar syndrome Type 1 and does not exceed 20 mg/dl in Crigler-Najjar syndrome Type 2.

Gilbert’s Disease:

• It is inherited as an autosomal dominant trait.
• The defect is in the uptake of bilirubin by the liver.
• Bilirubin level is usually around 3 mg/dl, and patient is asymptomatic, except for the presence of mild jaundice.

Dubin-Johnson Syndrome:

• It is an autosomal recessive trait leading to defective excretion of conjugated bilirubin.
• The disease results from the defective ATP-dependent organic anion transportin bile canaliculi.
• There is a mutation in the MRP-2 protein which is responsible for transport of  conjugated bilirubin into bile.
• The bilirubin gets deposited in the liver and the liver appears black. The condition is referred to as Black liver jaundice.

Rotor Syndrome

• exact defect is not identified. Bilirubin excretion is defective, but there is no staining of the liver. It is an autosomal recessive condition.

B→Acquired Hyperbilirubinemias:

Physiological Jaundice:

• Called as neonatal hyperbilirubinemia.
• Transient  hyperbilirubinemia  is due to an accelerated rate of destruction of RBCs and also because of the immature hepatic system of conjugation of bilirubin.

Breast milk jaundice

• In some breast-fed infants, prolongation of the  jaundice has been attributed to high level of an estrogen derivative in maternal blood, which is excreted through the milk.

Conjugated Hyperbilirubinemias

• Dubin Johnson’s syndrome
• Rotor syndrome
• Benign Recurrent intrahepatic Cholestatsis (BRIC)
• Progressive Familial intrahepatic Cholestatsis (FIC)

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