6 doctors weighed in:

Must I have a liver biopsy to confirm a diagnosis of hemochromatosis before I can begin treatment?

6 doctors weighed in
Dr. Ed Friedlander
Pathology
1 doctor agrees

In brief: I say no

I think I'm in the majority.
If it's obvious that you have the disease (very high ferritin and symptoms / imaging findings, and/or mutant HFE gene), I think most physicians will treat you.

In brief: I say no

I think I'm in the majority.
If it's obvious that you have the disease (very high ferritin and symptoms / imaging findings, and/or mutant HFE gene), I think most physicians will treat you.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
1 comment
Dr. Jovita Anyanwu
Yes. I agree that biopsy will offer no additional management benefit. Response to phlebotomy will be an additional confirmation of diagnosis
Dr. Fernando Austin
Internal Medicine - Gastroenterology
1 doctor agrees

In brief: Hemochromatosis

Liver biopsy was formerly considered the "gold standard" for establishing the diagnosis.
With the availability of genetic testing as well as the clinical assessment of the patient with other tests, liver biopsy is no longer considered essential to establish the diagnosis of hemochromatosis , depending upon local expertise & training however, a liver biopsy may still be recommended.

In brief: Hemochromatosis

Liver biopsy was formerly considered the "gold standard" for establishing the diagnosis.
With the availability of genetic testing as well as the clinical assessment of the patient with other tests, liver biopsy is no longer considered essential to establish the diagnosis of hemochromatosis , depending upon local expertise & training however, a liver biopsy may still be recommended.
Dr. Fernando Austin
Dr. Fernando Austin
Thank
1 comment
Dr. Cosme Manzarbeitia
While that is true, it confirms diagnosis and establishes a baseline for comparison prior to initiating therapy. It also helps establish the hepatic iron load and the fibrosis stage of the liver disease,
Dr. Marsha Davis
Internal Medicine

In brief: Yes

That is how definitive diagnosis is made and separated from other disorders.

In brief: Yes

That is how definitive diagnosis is made and separated from other disorders.
Dr. Marsha Davis
Dr. Marsha Davis
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