Wilson Disease Clinical Case MCQ with ABG Interpretation

Wilson Disease with Chronic Liver Disease, Portal Hypertension & Renal Tubular Acidosis Quiz

📋 History

• 45-year-old male
• Abdominal distension for 3 weeks, gradually increasing
• Bilateral leg swelling for 3 weeks
• Tarry stools on 2 occasions

👁️ Examination

• Scleral icterus present
• Kayser-Fleischer ring detected on slit-lamp examination
• Features suggestive of chronic liver disease
• Ascites and peripheral edema likely present

🧪 Investigations

Investigation	Finding
pH	7.2
PO₂	96 mmHg
PCO₂	29 mmHg
HCO₃⁻	15 mmol/L
Na⁺	135 mmol/L
K⁺	2.8 mmol/L
Cl⁻	114 mmol/L

Interpretation: Hyperchloremic metabolic acidosis with respiratory compensation and hypokalemia, suggestive of renal tubular acidosis.

❓ MCQ Questions

Q1. The ABG pattern shown is MOST consistent with:

A. Metabolic alkalosis
B. Respiratory alkalosis
C. Metabolic acidosis with respiratory compensation
D. Mixed respiratory and metabolic acidosis

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Q2. The eye finding is diagnostic of:

A. Hepatic encephalopathy
B. Wilson's disease
C. Primary biliary cholangitis
D. Haemochromatosis

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Q3. The MOST likely complete diagnosis in this patient is:

A. Haemochromatosis with portal hypertension
B. Wilson's disease with CLD, portal hypertension & RTA type 2
C. Autoimmune hepatitis with nephrotic syndrome
D. Alpha-1 antitrypsin deficiency with renal failure

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Q4. Which investigation is MOST specific for confirming this diagnosis?

A. Liver biopsy with PAS staining
B. Serum ferritin and transferrin saturation
C. Serum ceruloplasmin + 24-hour urinary copper
D. Anti-smooth muscle antibody

---

Q5. The FIRST-LINE pharmacological treatment for this condition is:

A. Desferrioxamine
B. D-penicillamine
C. N-acetylcysteine
D. Prednisolone

📝 Brief Case Summary

A middle-aged man presents with chronic liver disease manifestations including jaundice, ascites, pedal edema and probable portal hypertension. The presence of Kayser-Fleischer rings strongly suggests abnormal copper accumulation. Laboratory findings reveal hypokalemic hyperchloremic metabolic acidosis consistent with proximal renal tubular dysfunction. Together, these findings indicate Wilson disease complicated by chronic liver disease, portal hypertension and renal tubular acidosis.

✅ Click Here to Reveal Answers

Q1: C. Metabolic acidosis with respiratory compensation

Q2: B. Wilson's disease

Q3: B. Wilson's disease with CLD, portal hypertension & RTA type 2

Q4: C. Serum ceruloplasmin + 24-hour urinary copper

Q5: B. D-penicillamine

📖 Answer Explanation

Wilson disease is an autosomal recessive disorder caused by mutation of the ATP7B gene, leading to defective biliary copper excretion. Copper accumulates in the liver, brain, cornea and kidneys.

Kayser-Fleischer rings result from copper deposition in Descemet's membrane of the cornea and are highly suggestive of Wilson disease.

The ABG demonstrates metabolic acidosis (low pH and low bicarbonate) with respiratory compensation (low PCO₂). Hypokalemia and hyperchloremia indicate renal tubular acidosis, a recognized renal manifestation of Wilson disease.

Portal hypertension explains ascites, edema and episodes of melena likely resulting from variceal bleeding.

Low serum ceruloplasmin and elevated urinary copper are key diagnostic investigations. D-penicillamine remains a standard first-line copper chelating therapy.

❌ Why Not the Other Options?

Q1

• A. Metabolic alkalosis would show elevated bicarbonate.
• B. Respiratory alkalosis would have primary reduction in PCO₂ with near-normal bicarbonate.
• D. Mixed acidosis would show elevated PCO₂ rather than reduced PCO₂.

Q2

• Hepatic encephalopathy causes neurological symptoms but not KF rings.
• Primary biliary cholangitis does not produce corneal copper deposition.
• Haemochromatosis causes iron overload, not KF rings.

Q3

• Haemochromatosis is associated with iron overload.
• Autoimmune hepatitis does not explain KF rings and RTA.
• Alpha-1 antitrypsin deficiency lacks characteristic copper deposition.

Q4

• PAS staining helps diagnose alpha-1 antitrypsin deficiency.
• Ferritin and transferrin saturation evaluate iron overload.
• Anti-smooth muscle antibody suggests autoimmune hepatitis.

Q5

• Desferrioxamine is used for iron overload.
• N-acetylcysteine is used in acetaminophen toxicity.
• Prednisolone is used in autoimmune hepatitis.

🩺 5 Brief Case Scenarios

1. A 17-year-old male develops tremor, dysarthria and Kayser-Fleischer rings with low ceruloplasmin.
2. A 22-year-old woman presents with acute hepatitis, hemolytic anemia and elevated urinary copper.
3. A 30-year-old man has personality changes, dystonia and chronic liver disease.
4. A teenager presents with recurrent jaundice, splenomegaly and portal hypertension.
5. A young adult develops renal tubular acidosis with unexplained chronic liver dysfunction.

⚙️ Pathophysiology Simplified

Mutation of the ATP7B gene impairs copper transport and biliary copper excretion.

Copper accumulates in the:

• Liver → hepatitis, cirrhosis, portal hypertension
• Brain → tremor, dystonia, psychiatric symptoms
• Cornea → Kayser-Fleischer rings
• Kidneys → renal tubular dysfunction and RTA

Progressive copper toxicity causes multi-organ damage unless treated early.

🔍 Physical Examination Pearls

• Always examine for Kayser-Fleischer rings using slit lamp.
• Look for jaundice, spider angioma and palmar erythema.
• Assess for ascites and pedal edema.
• Check for splenomegaly indicating portal hypertension.
• Screen for tremor, rigidity, dystonia and dysarthria.
• Evaluate mental status for hepatic encephalopathy.

🧪 Investigation Findings

Investigation	Typical Finding
Serum Ceruloplasmin	Low
24-Hour Urinary Copper	Elevated
Liver Copper Content	Increased
Slit Lamp Examination	Kayser-Fleischer Ring
ABG	Metabolic Acidosis
Potassium	Low
Ultrasound Abdomen	Features of CLD and Portal Hypertension

⚠️ Complications

• Cirrhosis
• Portal hypertension
• Esophageal variceal bleeding
• Ascites
• Hepatic encephalopathy
• Acute liver failure
• Neurological disability
• Psychiatric disorders
• Renal tubular acidosis
• Hepatorenal syndrome

💊 Management

Initial Therapy

• D-Penicillamine
• Trientine (alternative chelator)
• Zinc acetate

Supportive Treatment

• Correct hypokalemia
• Treat metabolic acidosis
• Manage portal hypertension
• Control ascites
• Prevent variceal bleeding

Dietary Advice

• Avoid shellfish
• Avoid liver
• Avoid nuts
• Avoid chocolate
• Avoid mushrooms

Definitive Treatment

• Liver transplantation for end-stage disease

📋 Differential Diagnosis

• Haemochromatosis
• Autoimmune hepatitis
• Primary biliary cholangitis
• Primary sclerosing cholangitis
• Alpha-1 antitrypsin deficiency
• Chronic viral hepatitis
• Alcoholic liver disease

🚫 Clinical Pitfalls

• Missing Kayser-Fleischer ring examination.
• Assuming all chronic liver disease is alcohol related.
• Ignoring unexplained metabolic acidosis.
• Failure to measure urinary copper.
• Failure to screen siblings and first-degree relatives.

💡 Clinical Pearls

• Wilson disease is one of the few treatable inherited liver diseases.
• Kayser-Fleischer rings strongly support the diagnosis.
• Low ceruloplasmin is suggestive but not diagnostic alone.
• Urinary copper excretion is highly valuable diagnostically.
• Early treatment dramatically improves prognosis.
• Screen all first-degree relatives.

📈 Monitoring & Follow-up

• Liver function tests every follow-up visit.
• 24-hour urinary copper monitoring.
• Neurological assessment.
• Monitoring for D-penicillamine toxicity.
• Renal function monitoring.
• Assessment for portal hypertension complications.
• Nutritional counseling.

📊 Prognosis

Early diagnosis and lifelong copper-chelating therapy provide an excellent long-term outcome.

Untreated Wilson disease can progress to:

• Decompensated cirrhosis
• Neurological disability
• Liver failure
• Death

❓ Frequently Asked Questions (FAQ)

1. What causes Wilson disease?
   Mutation in ATP7B gene.
2. What metal accumulates?
   Copper.
3. What is a Kayser-Fleischer ring?
   Corneal copper deposition.
4. How is Wilson disease inherited?
   Autosomal recessive.
5. What is serum ceruloplasmin?
   A copper-carrying protein usually reduced in Wilson disease.
6. Why is urinary copper elevated?
   Excess body copper is excreted in urine.
7. Can Wilson disease cause cirrhosis?
   Yes.
8. What neurological symptoms occur?
   Tremor, dystonia and dysarthria.
9. Can Wilson disease cause psychiatric symptoms?
   Yes.
10. What is first-line therapy?
    D-Penicillamine.
11. What is the role of zinc?
    Reduces copper absorption.
12. What foods should be avoided?
    Shellfish, liver, nuts and chocolate.
13. Can Wilson disease be cured?
    Liver transplantation can be curative for liver disease.
14. Should family members be screened?
    Yes.
15. What is the prognosis with treatment?
    Usually excellent if diagnosed early.

📚 References

1. Harrison's Principles of Internal Medicine, 22nd Edition.
2. Davidson's Principles and Practice of Medicine.
3. Oxford Handbook of Clinical Medicine.
4. AASLD Practice Guidance on Wilson Disease.
5. EASL Clinical Practice Guidelines for Wilson Disease.

🏷️ Keywords

Wilson Disease Quiz Kayser Fleischer Ring Wilson Disease MCQ Copper Metabolism Disorder ATP7B Mutation Portal Hypertension Quiz Chronic Liver Disease Quiz Renal Tubular Acidosis Metabolic Acidosis ABG Internal Medicine Quiz FCPS Medicine MRCP Quiz Hepatology MCQ Copper Chelation Therapy Clinical Case Challenge

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