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First Post: A 21-year-old Female with Acute Liver Failure and Hemolytic Anemia

Hello, all!  It’s my privilege to begin posting on this blog – I’m a first-year anatomic pathology/clinical pathology resident at the Medical College of Wisconsin in Milwaukee and hopefully you’ll find some use out of my contributions to this multi-author blog!  I hope to share interesting cases that find their way into my training, blog about the experience of being a Pathology resident in the era of Obama, the current recession, and H1N1 influenza, and throw in a little humor for fun.

For my first post I’ll share an interesting case that my Blood Bank team last month was involved with, but is interesting from an Anatomic Pathology point-of-view too.  It’s identical to my post on my original blog (geniculating.blogspot.com) but I still haven’t posted the answer.  I’ve also changed some of the information to protect the patient’s privacy.

Case:

A 21-year-old female presented with a 5 week history of fatigue, anorexia, and mild jaundice. She was previously healthy with no past medical history, no medications, and no drug or medication use. The initial workup showed a normochromic, normocytic anemia (Hgb 11.5) and increased liver function tests and was negative for infectious mononucleosis and viral hepatitis. Just a few days after this basic workup her course worsened and she became more severely jaundiced and developed dark urine and right upper quadrant pain. She was admitted to a referring institution before being transferred to Milwaukee and the workup showed the following:

Afebrile and vital signs stable
Scleral icterus, jaundice, splenomegaly, and RUQ pain on exam

WBC: 13.5 H
Hgb: 6.5 L
Plt: 178
Creatinine: 2.2 H

ALT: 13
AST: 147 H
Alk phos: 17 L
Tbili: 42.9 H
Dbili: 12.6 H

INR: 3.1 H
Albumin: 2.3 L

LDH: 659 H
Haptoglobin: undetectable L
Retic: 11.79 H
Direct antiglobulin: neg.
Blood type: O+, Ab screen neg.

Peripheral smear: see image

ANA: within normal limits
Serum pregnancy test: neg.

Does anyone have a diagnosis? I’ll say that the peripheral smear is just of interest, not crucial to the diagnosis.  I thought it was just nice to see an image associated with the case.  I’ll post the diagnosis in a week with follow up photos in a new post and/or comment.

Just a question that I thought may be interesting to this particular case. What was the result of G6PD, if done?

Certainly other causes of hemolysis should be explored.

No G6PD screen was done in this case, either during the time of acute hemolysis or after stabilization. The screen would probably not be too helpful in the setting of ongoing hemolysis when the patient presented, as false normal tests may occur after hemolysis. If suspected, the screen could be performed during an outpatient workup.

The patient in my case was a female (G6PD is an X-linked recessive disease) without African, Middle Eastern, or South Asian ethnicity and although a G6PD deficiency is possible, it would be extremely unlikely.

The differential diagnosis should include both PNH and Wilson’s disease. Both are characterized by intravascular hemolysis with increased bilirubin, increased LDH, decreased of haptoglobin, and presence of hemoglobinuria. Also, the elevated liver enzymes and hepatic failure in PNH and Wilson’s disease may favor the diagnosis of either of these two rare diseases, especially, when laboratory findings reveal negative for the Coomb’s test.

Flow cytomety and serum copper level plus liver biopsy will help to rule in or rule out of those two rare diseases.

Although it is rare, G6PD can occur in females. My father and mother had it and passed it to me and 2 of my three brothers. The third brother has not yet been challenged by any medication or substance which woould produce a G6PD hemolytic episode, but it is only a matter of time. My father’s brother also had G6PD deficiency.

I know that in medical school, professors say,”If you hear hoof beats, think horses, not zebras.” However our family’s case is a “zebra,” and no swearing to the contrary will turn it into a “horse.”

Betty Chan, MLIS, Medical Librarian