Wilson's Disease with Case

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.