Let's move on to our next case.
A 19-year-old woman is admitted for new
confusion and jaundice for one week.
She has no history of liver disease, does not
drink alcohol and does not use illicit drugs.
She takes no medications or supplements.
She has not traveled recently.
Her vitals are notable for a blood pressure
of 85/52 (mmHg) and heart rate of 115 (bpm).
She is disoriented.
Physical exam is notable for
jaundice and asterixis.
On slit-lamp exam, she has golden
brown discoloration around her irises.
Labs show an AST of
250 (U/L), ALT 225 (U/L),
INR 1.7 and total bilirubin of 6.5 (mg/dL).
Her viral hepatitis serologies are negative.
So what is the most likely diagnosis?
Here we can point out that
she has confusion and jaundice
which localizes to the hepatobiliary system.
And importantly, she has a negative history
of any exposures known to cause liver injury.
So no known liver disease, no alcohol, illicit
drugs, medications and no recent travel.
On physical exam, she appears ill and is
disoriented which is quite concerning.
And she has this golden brown
discoloration around the irises of her eyes,
these are what we might call
In addition, she has lab
findings of acute liver failure.
So, her most likely
diagnosis is Wilson's disease.
This is a rare congenital
disorder of copper metabolism.
Patients may present from with
acute liver failure at a young age
or it may be a more chronic insidious
process leading to liver disease
causing neurologic problems in older age.
The diagnosis is made by mild
elevation in transaminases.
Patients often have a low
They often have a low cerulopasmin
level, a high urine copper
and you may do genetic testing if
the diagnosis is still unclear.
Treatment is with copper chelating
agents like trientine or penicillamine.
As a quick aside and a
high-yield learning point,
you should always remember to consider
Wilson's disease on your differential
if you see a young patient under age 40 with
unexplained liver disease or acute liver failure.
So now let's go through some
clinical features of this disease.
When copper deposits into the eye, this can lead to
the typical appearance of Kayser-Fleischer rings
which is these corneal deposition
of copper around the irises.
This disease can also affect
the brain leading to tremors,
dystonias and dysarthrias, parkinsonism
and changes in patient's behavior.
And of course, the liver can be effected.
So patients can develop an
enlarged liver, inflammation or hepatitis.
They can have acute liver
failure and they may have cirrhosis.
So now we return to our case.
Our 19-year-old woman with
new confusion and jaundice.
She has no known exposures
known to cause liver injury.
She does appear quite sick and she has
this Kayser-Fleischer rings on exam.
So, first I'm gonna point out that Kayser-Fleischer
rings on exam are not always present in real life.
But when you see them on a test, they
are pathognomonic for Wilson's disease.
So you can make this
diagnosis quite comfortably.