00:02
Let's move on to our next case.
00:04
A 19-year-old woman is admitted for new
confusion and jaundice for one week.
00:09
She has no history of liver disease, does not
drink alcohol and does not use illicit drugs.
00:15
She takes no medications or supplements.
00:18
She has not traveled recently.
00:20
Her vitals are notable for a blood pressure
of 85/52 (mmHg) and heart rate of 115 (bpm).
00:26
She is disoriented.
00:29
Physical exam is notable for
jaundice and asterixis.
00:32
On slit-lamp exam, she has golden
brown discoloration around her irises.
00:38
Labs show an AST of
250 (U/L), ALT 225 (U/L),
INR 1.7 and total bilirubin of 6.5 (mg/dL).
00:48
Her viral hepatitis serologies are negative.
00:51
So what is the most likely diagnosis?
Here we can point out that
she has confusion and jaundice
which localizes to the hepatobiliary system.
01:03
And importantly, she has a negative history
of any exposures known to cause liver injury.
01:08
So no known liver disease, no alcohol, illicit
drugs, medications and no recent travel.
01:16
On physical exam, she appears ill and is
disoriented which is quite concerning.
01:24
And she has this golden brown
discoloration around the irises of her eyes,
these are what we might call
Kayser-Fleischer rings.
01:33
In addition, she has lab
findings of acute liver failure.
01:39
So, her most likely
diagnosis is Wilson's disease.
01:43
This is a rare congenital
disorder of copper metabolism.
01:49
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.
02:02
The diagnosis is made by mild
elevation in transaminases.
02:06
Patients often have a low
alkaline phosphatase.
02:10
They often have a low cerulopasmin
level, a high urine copper
and you may do genetic testing if
the diagnosis is still unclear.
02:21
Treatment is with copper chelating
agents like trientine or penicillamine.
02:28
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.
02:44
So now let's go through some
clinical features of this disease.
02:48
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.
03:00
This disease can also affect
the brain leading to tremors,
dystonias and dysarthrias, parkinsonism
and changes in patient's behavior.
03:11
And of course, the liver can be effected.
03:14
So patients can develop an
enlarged liver, inflammation or hepatitis.
03:18
They can have acute liver
failure and they may have cirrhosis.
03:25
So now we return to our case.
03:27
Our 19-year-old woman with
new confusion and jaundice.
03:31
She has no known exposures
known to cause liver injury.
03:35
She does appear quite sick and she has
this Kayser-Fleischer rings on exam.
03:40
So, first I'm gonna point out that Kayser-Fleischer
rings on exam are not always present in real life.
03:47
But when you see them on a test, they
are pathognomonic for Wilson's disease.
03:52
So you can make this
diagnosis quite comfortably.