UPSC MainsMEDICAL-SCIENCE-PAPER-I202110 Marks
Q3.

A 14-year-old girl presented with low-grade fever, loss of appetite and yellow discolouration of conjunctiva. The attending physician suggested evaluation of liver functions of the patient. Define and classify jaundice.

How to Approach

This question requires a clear understanding of jaundice – its definition, underlying pathophysiology, and classification. The answer should begin with a concise definition of jaundice, followed by a detailed classification based on the site of the bilirubin accumulation (pre-hepatic, hepatic, and post-hepatic). Each type should be explained with its causes, associated clinical features, and relevant investigations. A structured approach using headings and subheadings will enhance clarity. Focus on providing a medically accurate and comprehensive response.

Model Answer

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Introduction

Jaundice, clinically characterized by the yellowish discoloration of the sclera, skin, and mucous membranes, is a common clinical sign indicating an underlying disturbance in bilirubin metabolism. It arises from an elevated level of bilirubin in the blood (hyperbilirubinemia). While often associated with liver disease, jaundice can result from conditions affecting bilirubin production, hepatic processing, or biliary excretion. Understanding the etiology and classification of jaundice is crucial for accurate diagnosis and appropriate management, particularly in pediatric cases like the 14-year-old girl presented.

Definition of Jaundice

Jaundice is defined as a visible yellow discoloration of the sclera and skin caused by an increase in serum bilirubin levels. Bilirubin is a yellow pigment produced during the normal breakdown of heme, a component of hemoglobin in red blood cells. Normally, bilirubin is processed by the liver and excreted in bile. When this process is disrupted, bilirubin accumulates in the bloodstream, leading to jaundice.

Classification of Jaundice

Jaundice is broadly classified into three main categories based on the site of the defect in bilirubin metabolism:

1. Pre-hepatic Jaundice (Hemolytic Jaundice)

This type of jaundice occurs due to excessive production of bilirubin, overwhelming the liver's capacity to process it. The defect lies *before* the liver.

  • Causes: Hemolytic anemias (e.g., sickle cell anemia, thalassemia, autoimmune hemolytic anemia), ineffective erythropoiesis, resorption of large hematomas, and certain genetic deficiencies (e.g., G6PD deficiency).
  • Pathophysiology: Increased breakdown of red blood cells leads to increased unconjugated bilirubin in the blood.
  • Laboratory Findings: Elevated unconjugated bilirubin, normal or slightly elevated liver enzymes (AST, ALT), decreased haptoglobin, increased reticulocyte count, and evidence of hemolysis on peripheral blood smear.
  • Example: A patient with sickle cell crisis experiencing acute hemolysis.

2. Hepatic Jaundice (Hepatocellular Jaundice)

This type of jaundice results from impaired bilirubin processing *within* the liver cells (hepatocytes).

  • Causes: Hepatitis (viral, alcoholic, autoimmune), cirrhosis, drug-induced liver injury, genetic disorders (e.g., Gilbert's syndrome, Crigler-Najjar syndrome), and liver cancer.
  • Pathophysiology: Impaired uptake, conjugation, or excretion of bilirubin by hepatocytes. Both conjugated and unconjugated bilirubin levels can be elevated.
  • Laboratory Findings: Elevated conjugated and unconjugated bilirubin, significantly elevated liver enzymes (AST, ALT), elevated alkaline phosphatase (ALP), and potentially abnormal prothrombin time (PT).
  • Example: A patient with chronic hepatitis C developing cirrhosis and subsequent jaundice.

3. Post-hepatic Jaundice (Obstructive Jaundice)

This type of jaundice occurs due to a blockage in the biliary system, preventing bilirubin from being excreted into the intestines. The defect lies *after* the liver.

  • Causes: Gallstones, biliary strictures, pancreatic cancer, cholangiocarcinoma (bile duct cancer), and extrinsic compression of the bile ducts.
  • Pathophysiology: Obstruction of bile flow leads to a buildup of conjugated bilirubin in the liver and bloodstream.
  • Laboratory Findings: Elevated conjugated bilirubin, elevated ALP and gamma-glutamyl transferase (GGT), normal or mildly elevated AST and ALT, and potentially pale stools and dark urine.
  • Example: A patient with gallstones obstructing the common bile duct.
Type of Jaundice Primary Defect Bilirubin Type Elevated Liver Enzymes ALP/GGT
Pre-hepatic Increased Bilirubin Production Unconjugated Normal/Slightly Elevated Normal
Hepatic Impaired Liver Processing Conjugated & Unconjugated Significantly Elevated Elevated
Post-hepatic Biliary Obstruction Conjugated Normal/Mildly Elevated Highly Elevated

Conclusion

In conclusion, jaundice is a clinical manifestation of hyperbilirubinemia, categorized based on the underlying pathophysiology – pre-hepatic, hepatic, or post-hepatic. Accurate classification, guided by a thorough history, physical examination, and appropriate laboratory investigations, is essential for determining the cause of jaundice and initiating targeted treatment. The case of the 14-year-old girl necessitates a comprehensive evaluation of liver function tests and further investigations to pinpoint the specific etiology of her jaundice and guide appropriate management.

Answer Length

This is a comprehensive model answer for learning purposes and may exceed the word limit. In the exam, always adhere to the prescribed word count.

Additional Resources

Key Definitions

Hyperbilirubinemia
A condition characterized by an abnormally high level of bilirubin in the blood.
Conjugated Bilirubin
Bilirubin that has been processed by the liver, making it water-soluble and able to be excreted in bile.

Key Statistics

Globally, an estimated 1.4 million cases of jaundice occur annually, with a significant proportion linked to viral hepatitis.

Source: World Health Organization (WHO), 2023 (Knowledge Cutoff)

Hepatitis B and C infections are responsible for approximately 80% of hepatocellular carcinoma cases globally.

Source: International Agency for Research on Cancer (IARC), 2020 (Knowledge Cutoff)

Examples

Gilbert's Syndrome

A common, mild genetic disorder causing intermittent unconjugated hyperbilirubinemia, often triggered by stress, fasting, or illness. It's a form of hepatic jaundice.

Frequently Asked Questions

What is the significance of dark urine in jaundice?

Dark urine in jaundice indicates the presence of conjugated bilirubin, which is water-soluble and excreted in urine when bile flow is obstructed (post-hepatic jaundice).

Topics Covered

MedicineGastroenterologyLiver DiseasesBilirubin MetabolismJaundice Types