A 21-year-old woman is brought to the emergency department by her family due to progressiv… — USMLE Step 2 CK

A 21-year-old woman is brought to the emergency department by her family due to progressively worsening confusion, jaundice, and abdominal swelling over the past 5 days. She has no significant past medical history, takes no medications, and does not consume alcohol. Her temperature is $37.2^\circ\text{C}$ ( $99^\circ\text{F}$ ), blood pressure is $105/60\text{ mmHg}$ , pulse is $112/\text{min}$ , and respiratory rate is $22/\text{min}$ . Physical examination reveals severe scleral icterus, palmar erythema, and a distended abdomen with shifting dullness. She is lethargic and oriented only to person. Asterixis is elicited upon wrist extension.

Laboratory results are as follows:

Test	Result
Hemoglobin	$7.8\text{ g/dL}$
Mean corpuscular volume	$95\text{ fL}$
Reticulocyte count	$9\%$
Platelets	$140,000/\text{mm}^3$
Leukocytes	$8,500/\text{mm}^3$
Total bilirubin	$24.5\text{ mg/dL}$
Direct bilirubin	$15.2\text{ mg/dL}$
Alkaline phosphatase	$32\text{ U/L}$
Aspartate aminotransferase (AST)	$1,850\text{ U/L}$
Alanine aminotransferase (ALT)	$780\text{ U/L}$
Lactate dehydrogenase	$1,100\text{ U/L}$
Haptoglobin	$<10\text{ mg/dL}$
Prothrombin time	$32\text{ seconds}$
INR	$3.1$

Direct antiglobulin (Coombs) test is negative. Blood and urine cultures are drawn.

Which of the following is the most appropriate next step in the management of this patient?

Referral for urgent liver transplantationAnswer
B
Initiation of oral D-penicillamine
C
Intravenous administration of broad-spectrum antibiotics
D
Intravenous N-acetylcysteine infusion
E
High-dose intravenous methylprednisolone

Answer

Referral for urgent liver transplantation

The correct answer is referral for urgent liver transplantation. This patient presents with acute liver failure (hepatic encephalopathy and an INR

\geq

1.5) and a classic laboratory pattern of Coombs-negative hemolytic anemia (low hemoglobin, elevated reticulocytes, high LDH, low haptoglobin) coupled with an alkaline phosphatase-to-total bilirubin ratio of less than 4 (

32 / 24.5 = 1.3

). This specific triad strongly indicates fulminant Wilson disease. The rapid, massive release of copper from necrotic hepatocytes causes severe intravascular hemolysis and directly inhibits alkaline phosphatase synthesis. Unlike chronic Wilson disease, fulminant Wilson disease is uniformly fatal without emergent liver transplantation. Medical therapy is far too slow to reverse the acute failure, making referral for urgent liver transplantation the definitive next step.

Step-by-Step Solution

Identify the primary clinical syndrome.

The patient is experiencing Acute Liver Failure (ALF).

She presents with severe hepatic dysfunction (jaundice, markedly elevated transaminases), severe coagulopathy (INR 3.1), and hepatic encephalopathy (lethargy, asterixis) without prior chronic liver disease.

Analyze the hematologic laboratory results.

The patient has Coombs-negative hemolytic anemia.

The hemoglobin is low, reticulocytes are elevated, LDH is markedly high, haptoglobin is undetectable, and the direct antiglobulin test is negative.

Interpret the specific liver injury pattern to establish the etiology.

The lab profile is highly specific for fulminant Wilson disease.

The AST-to-ALT ratio is > 2.2 (

1,850/780 = 2.37

) and the alkaline phosphatase-to-total bilirubin ratio is < 4 (

32/24.5 = 1.3

). The paradoxically low alkaline phosphatase is caused by copper displacing zinc, which is a necessary cofactor for the enzyme.

Determine the optimal management for fulminant Wilson disease.

Referral for urgent liver transplantation.

Medical therapies (like copper chelators) are ineffective in the fulminant setting due to their slow onset of action; mortality approaches 100% without emergent transplantation.

Key Concept

Fulminant Wilson disease uniquely presents with a triad of acute liver failure, Coombs-negative hemolytic anemia, and an alkaline phosphatase-to-total bilirubin ratio < 4. The definitive and only life-saving treatment is urgent liver transplantation.

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