UPSC MainsMEDICAL-SCIENCE-PAPER-I201910 Marks
Q3.

Jaundice Diagnosis: Liver Function Tests

A 35 year old man presented with complaints of generalised weakness, loss of appetite and yellowish discolouration of eyes. The liver function test was done and the report is as follows: Total bilirubin : 10 mg/dL (0-1-1-2 mg/dL) Direct bilirubin : 9 mg/dL (< 0-3 mg/dL) Alanine transaminase (ALT) : 31 IU/L (<35 IU/L) Aspartate transaminase (AST) : 33 IU/L (<40 IU/L) Alkaline phosphatase (ALP) : 800 IU/L (45-150 IU/L) (i) What is the most likely diagnosis and why? (ii) What will be the expected findings in urine and stool?

How to Approach

This question requires a systematic approach to diagnosis based on provided liver function test (LFT) results. The approach should involve identifying the pattern of LFT abnormalities (cholestatic vs. hepatocellular), correlating it with the clinical presentation (jaundice, weakness, loss of appetite), and arriving at the most probable diagnosis. The expected findings in urine and stool should then be predicted based on the diagnosis. The answer should be structured into two parts: diagnosis with justification, and expected findings in urine and stool.

Model Answer

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Introduction

Jaundice, characterized by the yellowish discoloration of the sclera and skin, is a common clinical presentation indicating an underlying disturbance in bilirubin metabolism. Elevated bilirubin levels, as seen in this case (10 mg/dL), necessitate investigation into the cause, which can range from pre-hepatic, hepatic, or post-hepatic etiologies. Liver function tests (LFTs) are crucial in differentiating these causes. The provided LFT results demonstrate a significant elevation in direct bilirubin and alkaline phosphatase (ALP), with relatively normal ALT and AST levels. This pattern strongly suggests a cholestatic picture, indicating impaired bile flow.

(i) Most Likely Diagnosis and Justification

The most likely diagnosis is extrahepatic biliary obstruction, specifically likely due to choledocholithiasis (gallstones in the common bile duct). This is based on the following:

  • Elevated Direct Bilirubin: A disproportionately high level of direct bilirubin (9 mg/dL) indicates a problem with bilirubin excretion, typical of obstructive jaundice.
  • Markedly Elevated Alkaline Phosphatase (ALP): ALP is an enzyme found in the biliary tract. A significantly elevated ALP (800 IU/L) is a hallmark of biliary obstruction.
  • Relatively Normal Transaminases (ALT & AST): ALT and AST are indicators of hepatocellular damage. Their levels being within the normal range suggest that the liver cells themselves are not significantly injured. This differentiates it from hepatocellular causes of jaundice like hepatitis.
  • Clinical Presentation: The patient's symptoms of generalized weakness, loss of appetite, and jaundice are consistent with biliary obstruction.

While other conditions can cause cholestasis, such as primary biliary cholangitis (PBC) or primary sclerosing cholangitis (PSC), these are typically chronic conditions and less likely to present acutely with this LFT pattern in a 35-year-old male. Intrahepatic cholestasis of pregnancy is also ruled out given the patient’s gender.

(ii) Expected Findings in Urine and Stool

Based on the diagnosis of extrahepatic biliary obstruction, the following findings are expected:

  • Urine: The urine will be darkly colored (tea-colored or cola-colored) due to the excretion of conjugated bilirubin in the urine (bilirubinuria). This is because conjugated bilirubin is water-soluble and can be excreted by the kidneys.
  • Stool: The stool will be pale or clay-colored (acholic stool). This is because the obstruction prevents bilirubin from reaching the intestines, which is necessary for the normal pigmentation of stool. The lack of bilirubin in the gut results in the absence of stercobilin, the pigment responsible for the normal brown color of feces.

Further investigations to confirm the diagnosis would include:

  • Ultrasound of the abdomen: To visualize the biliary tree and identify any stones or masses.
  • CT scan or MRI: If ultrasound is inconclusive.
  • MRCP (Magnetic Resonance Cholangiopancreatography): A non-invasive imaging technique to visualize the biliary and pancreatic ducts.
  • ERCP (Endoscopic Retrograde Cholangiopancreatography): Both diagnostic and therapeutic; can be used to remove stones or place stents.

Conclusion

In conclusion, the presented clinical picture and LFT results strongly suggest extrahepatic biliary obstruction, most likely due to choledocholithiasis. The expected findings of dark urine and pale stools further support this diagnosis. Prompt investigation with appropriate imaging modalities is crucial to confirm the diagnosis and initiate timely treatment, such as ERCP, to relieve the obstruction and prevent complications like cholangitis and liver damage. Early diagnosis and intervention are key to a favorable outcome.

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

Cholestasis
Cholestasis refers to the reduction or stoppage of bile flow from the liver. It can occur within the liver (intrahepatic cholestasis) or outside the liver (extrahepatic cholestasis).
Bilirubinuria
The presence of bilirubin in the urine, indicating a problem with bilirubin excretion. It is a key finding in obstructive jaundice.

Key Statistics

Choledocholithiasis is estimated to be present in approximately 10-15% of patients with symptomatic gallstone disease.

Source: UpToDate (Knowledge Cutoff: 2023)

Gallstones are the most common cause of biliary obstruction, accounting for approximately 80% of cases.

Source: Harrison's Principles of Internal Medicine (Knowledge Cutoff: 2022)

Examples

Primary Biliary Cholangitis (PBC)

PBC is a chronic autoimmune disease that slowly destroys the small bile ducts in the liver, leading to cholestasis. It typically presents with elevated ALP and fatigue, but usually develops over years rather than acutely.

Frequently Asked Questions

What other causes can lead to elevated ALP?

Elevated ALP can also be seen in conditions like bone diseases (e.g., Paget's disease), certain medications, and during the third trimester of pregnancy (placental ALP). However, the clinical context and other LFTs help differentiate these causes.

Topics Covered

MedicineGastroenterologyLiver DiseaseJaundiceBilirubin