Case

What is the diagnosis in 2 words?

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How would you describe the CBC?

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Macrocytic anemia with anisocytosis and thrombocytopenia

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Which of the following conditions is associated with macrocytic anemia?

Below is a differential diagnosis for macrocytosis:

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Now let’s look at the patient’s CBC over time:

Based on the red cell requirments, what are the 2 most likely diagnostic buckets?

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• Bleeding
• Hemolysis

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The following were the patient’s reticulocyte counts:

Are these counts consistent with blood loss and hemolysis?

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Yes! An absolute reticulocyte count > 0.12 (x 10^12/L) is considered an appropriate reticulocyte count in the setting of anemia

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On the first slide it was indicated that the patient had no evidence of bleeding. That leaves hemolysis as the most likely cause.

What labs would you order to confirm hemolysis?

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• Haptoglobin
• LDH
• AST
• Indirect bilirubin

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The following is a review of commonly ordered hemolytic markers. Note how closely they overlap with changes in liver disease:

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The hemolytic markers in this patient are shown here:

These data are consistent with (more than one answer may apply):

Based on the labs so far, what are the most likely cause)s) of the macrocytosis?

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• Reticulocytosis
• Liver diseae

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Below is a differential diagnosis for hemolysis:

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You were told on the first slide that the peripheral smear was unremarkable. That is very helpful in narrow our differential diagnosis of hemolytic anemia:

Note that a normal smear in the setting of hemolysis is most consistent with:

• G6PD deficiency
• PNH
• Wilson disease
• Zieve syndrome

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So far, we have a 28 yo M, previously well, presenting with fatigue and jaundice, found to have a hyperproliferative macrocytic anemia, shorted RBC survival consistent with hemolysis, hemolytic markers consistent with both hemolysis and liver disease, and a normal blood smear. Of the diagnoses most consistent with hemolysis + normal peripheral smear (see last slide), only Wilson disease and Zieve syndrome are associated with significant liver disease. It was stated in the initial presentation that that the patient was previously well, which makes Zieve syndrome less likely (as does the extent of liver failure). Indeed, the patient was diagnosed with Wilson disease!

Note that we have approached this case from a hematological angle (for teaching purposes). Of course, when the patient was admitted, he was assessed by the liver service (and hematology, among other services, was consulted). The liver team would have used a diagnostic scoring system (e.g., the Leipzig score) to secure the diagnosis. The Leipzig score includes the following parameter:

Patient results:

Easily meets the criteria for diagnosis of Wilson disease.

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