Ask The Expert Question: Does the liver biopsy have a role to play in the diagnosis of here ditary hemochromatosis in light of DNA test and ferritin level studies?
by Beth A. Pletcher, MD, February 2000

A: This is an excellent question and one that has been debated recently with advances in the molecular technology and serum screening testing. The most concise answer I can give is: the vast majority of individuals with hemochromatosis can be diagnosed and managed without ever having to have a liver biopsy. As more internists are screening patients for iron overload in their offices, many more asymptomatic patients will be identified and treated before ever experiencing any medical complications. The most sensitive tests for iron overload are the transferrin saturation and serum ferritin, which will identify most patients with hemochromatosis. In addition, the molecular based test can be helpful in confirming hereditary hemochromatosis since about 85% of affected individuals will be identified to have this single gene mutation. Below is an algorithm for possible screening and management based upon recommendations from experts in the field of iron overload.

• Routine screening may be offered to all patients >18 years of age This should include a transferrin saturation test (serum iron/TIBC)

• If this is >45% then a serum ferritin should be performed

• If this is >150 then patient should be offered the DNA test to see if they are homozygous or heterozygous for the common gene mutation

As stated above, the jury is still out on the application of liver biopsies, but experts agree that if the affected individual is less than 30 years of age, has normal LFTs and the ferritin is less than 1000, a liver biopsy is not necessary. However, if the patient is over 30 years of age and has a ferritin over 1000, then a liver biopsy may be helpful in providing some prognostic information regarding cirrhosis and risk for hepatoma. Since liver biopsy has a risk for morbidity and low but real risk for mortality, patients may be reluctant to consent for this procedure. They should still be offered treatment. Initial treatment is weekly to biweekly phlebotomy for 4 to 6 weeks as long as the Hct is >35% prior to each blood draw until the ferritin is <20. This should then be followed by a maintenance program 3 to 4 blood "donations" per year to maintain ferritin <20 for the rest of their lives.

For more information on this topic you can visit http://www.ironoverload.org