Comments on: First Post: A 21-year-old Female with Acute Liver Failure and Hemolytic Anemia http://pathtalk.org/archives/892 is a weblog about pathology and laboratory medicine. Fri, 26 Feb 2010 14:58:46 +0000 http://wordpress.org/?v=2.9.2 hourly 1 By: Betty Chan http://pathtalk.org/archives/892/comment-page-1#comment-1451 Betty Chan Mon, 15 Feb 2010 04:57:23 +0000 http://pathtalk.org/?p=892#comment-1451 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 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

]]> By: Ali Deria http://pathtalk.org/archives/892/comment-page-1#comment-1255 Ali Deria Tue, 08 Sep 2009 18:30:12 +0000 http://pathtalk.org/?p=892#comment-1255 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. 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.

]]> By: Chris Cogbill http://pathtalk.org/archives/892/comment-page-1#comment-1237 Chris Cogbill Mon, 24 Aug 2009 13:14:22 +0000 http://pathtalk.org/?p=892#comment-1237 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. 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.

]]> By: Ali Deria http://pathtalk.org/archives/892/comment-page-1#comment-1233 Ali Deria Sun, 23 Aug 2009 16:48:28 +0000 http://pathtalk.org/?p=892#comment-1233 Just a question that I thought may be interesting to this particular case. What was the result of G6PD, if done? Just a question that I thought may be interesting to this particular case. What was the result of G6PD, if done?

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