Archive Of Standardized Exam Questions: Wilson Disease

OVERVIEW

This page is dedicated to organizing various examples of standardized exam questions whose topic is Wilson disease. While this may seem a odd practice, it is useful to see multiple examples of how Wilson disease will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a topic is quite valuable.

KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)

When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for Wilson disease. 

  • Corneal deposits (Kayser-Fleischer rings): these are golden brown corneal rings that are caused by copper deposition.
  • Serum findings:
    • Decreased ceruloplasmin
    • Increased free serum copper 
QUESTION EXAMPLES

Question # 1

 

Explanation # 1

 

Question # 2

 

Explanation # 2

 

TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)

Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:

  • Cause:
    • Gene involved: mutations on the ATP7B gene cause this condition.
    • Consequence: improper copper excretion from the body, and as a result, its accumulation. 
    • Inheritance pattern: autosomal recessive.  
  • Structures damaged:
    • Liver: hepatocytes will initially be filled up with copper (and will be damaged)
    • Brain: cystic degeneration occurs in the putamen (as well as some other basal ganglia structures). 
    • Eye: the corners can be the site of copper accumulation. 
    • Kidneys 
    • Joints
  • Treatment:
    • Copper chelation: using D-penicillamine or trientine.
    • Oral zinc: prevents copper absorption by increasing the endogenous chelator metallothionein in the enteric cells

 

 

Page Updated: 05.05.2017