GASTROENTEROLOGY ARTICLE OF THE WEEK

April 12, 2001

 Bacon Bruce R.  Hemochromatosis.  Gastroenterology 2001;120:718-725.

 1.  Regarding the interpretation of iron tests in patients with possible hemochromatosis

a.  both the transferrin saturation and the ferritin are elevated in symptomatic patients.

b.  the ferritin level increases before the transferrin saturation becomes abnormal

            c.  a high serum ferritin is usually indicative of iron overload

            d.  a transferrin saturation of >45% fasting indicates possible iron overload

 2.  Which of the following parameters decrease the chance of finding fibrosis or cirrhosis in patients with recently diagnosed hemochromatosis?

            a.  ferritin >1,000

            b.  age < 40

            c.  absence of hepatomegaly

            d.  normal liver enzyme levels

            e.  ferritin < 1,000

 True or False

 3.  All patients with the C282Y mutation who do not have excessive blood loss will develop iron overload and symptoms/signs of hemochromatosis

 4.  First degree relatives of patients with C282Y mutation should be screened with HLA typing and DNA probe testing for HFE mutations.

 5.  The C282Y mutation is present in over 98% of patients with typical features of  hemochromatosis.

 6.  Most alcoholics with ferritin levels >500 have an HFE mutation.

 7.  Patients with compound heterozygocity (C282Y/H63D) may develop symptomatic hemochromatosis.

 8.  Abnormal iron studies suggesting iron overload do not require further evaluation in those patients with normal liver enzyme levels and no symptoms.

 9.  In the evaluation of a 53 y/o asymptomatic male with an ALT of 40, transferrin saturation of 56%, ferritin of 1,350, normal physical exam and homozygote for C282Y, a liver biopsy should be performed

 10.  Phlebotomy therapy for hemochromatosis

            a.  phlebotomy should be done every other week

            b.  goal is to achieve a transferrin saturation <50%, a ferritin < 50

            c.  goal is for the patient to develop anemia, target hematocrit is 30%

d.  Monitoring ferritin and transferrin saturation every 3 months is reasonable

e.  once iron depletion is achieved, futher phlebotomies are rarely required.

 11.  A man is found to be homozygote for C282Y mutation, he has 4 children.  The most cost-effective way of screening his children is:

            a.  check iron, TIBC, ferritin in each child, repeat yearly if normal

            b.  check for HFE mutation in each child

            c.  check for HFE mutation in his wife, if she is heterozygote for

C282Y, all the children should be tested

            d.  check for HFE mutation in his wife, if she is heterozygote only for

H63D, there is no need to test children

            e.  before checking his wife, be sure she is the mother of his children!

            f.  Do HLA typing on the father, then test each child for HLA match

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