Wilson's disease - abrahem

[ArchivalUser]

A 21-year-old college student is brought to the emergency department by his friends because of bizarre behavior. His friends state that he has been acting "a little odd" lately, but they are unaware of any drug abuse. He does drink alcohol but is not known as a binge drinker. His friends do not know his medical history but state he was taking a prescription drug for a "metabolic disorder," which he stopped several months ago. He is uncooperative, paranoid, and disoriented. You note brownish pigmentation of his corneas on physical exam. This may be the first case of Wilson's disease you have ever seen.





Regarding this patient, which of the following is INCORRECT?
A) The patient has likely had episodes of hemolytic anemia in the past.
B) The patient has likely discontinued zinc.
C) The patient likely has an elevated ceruloplasmin level on blood test.
D) The patient likely has hepatolenticular degeneration.
E) The patient is at risk for hepatic failure.

[ArchivalUser]

BBBB

[ArchivalUser]

c.

[ArchivalUser]

A.

[ArchivalUser]

B is rt ans
copper is toxic to red cell when level is so high....hemolytic anemia.

[ArchivalUser]

C is the right ans, because wilson's disease ceruloplasmin level should be suppressed.

[ArchivalUser]

The correct answer is B. This patient likely has Wilson™s disease, which presents with decreased levels of ceruloplasmin, increased liver enzymes, and signs of hemolysis (from the direct toxic effect of copper on the cell). Symptoms typically present in the teens and early twenties. Presenting symptoms may include Kayser-Fleisher rings (golden-brown pigmentation of the cornea), hemolytic anemia, or neurologic symptoms, often mimicking psychiatric illness. Treatment of the disease includes lifelong therapy with zinc (or 2nd choice trientine), and should be considered even for asymptomatic individuals known to have the disease.