Question about the liver pathologies

Question

A 30-year-old woman presents to the emergency department with fatigue, abdominal pain, and jaundice. Her liver function tests reveal elevated bilirubin and alanine aminotransferase (ALT), and her serum ceruloplasmin level is decreased. Which of the following conditions is most likely present in this patient?

1. A) Acute viral hepatitis
2. B) Primary biliary cholangitis
3. C) Wilson disease
4. D) Autoimmune hepatitis
5. E) Hemochromatosis

Answer 1

Answer: C) Wilson disease

1. Explanation: Wilson disease is a genetic disorder that results in defective copper transport, leading to copper accumulation in tissues, particularly the liver and brain. Decreased ceruloplasmin levels are a hallmark of Wilson disease. Symptoms often include hepatic dysfunction, neurological symptoms, and psychiatric disturbances. The diagnosis is confirmed with a low serum ceruloplasmin level, elevated urinary copper excretion, and hepatic copper accumulation.

Answer 2

Answer: C) Wilson disease

Explanation:

This patient has elevated bilirubin and liver enzymes, along with a low serum ceruloplasmin level. Low ceruloplasmin is strongly associated with Wilson disease, a genetic disorder that leads to excessive copper accumulation, especially in the liver and brain. In the liver, this can cause hepatitis-like symptoms, including fatigue, abdominal pain, and jaundice.

Other conditions listed here do not typically cause a decrease in ceruloplasmin:

    •    Acute viral hepatitis and autoimmune hepatitis can cause elevated liver enzymes but don’t affect ceruloplasmin levels.

    •    Primary biliary cholangitis affects the bile ducts, not ceruloplasmin.

    •    Hemochromatosis involves iron overload, not copper, and ceruloplasmin remains normal.

Therefore, Wilson disease is the most likely diagnosis .