darkhorse
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A 55-year-old white male with a history of diabetes presents to your office with complaints of
generalized weakness, weight loss, nonspecific diffuse abdominal pain, and erectile dysfunction.
The examination is significant for hepatomegaly without tenderness, testicular atrophy, and
gynecomastia. Skin examination shows a diffuse slate-gray hue slightly more pronounced on
the face and neck. Joint examination shows mild swelling of the second and third
metacarpophalangeal joints on the right hand. What is the recommended test for diagnosis?
A. Serum ferritin
B. Serum iron studies, including transferrin saturation
C. Urinary iron quantification in 24-h collection
D. Genetic screen for HFE gene mutation (C282Y and H63D)
E. Liver biopsy
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| bax
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E
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| dr.wad
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E
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| dr penicillin
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E hemochromatosis
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| darkhorse
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| doc_clotaire
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B. Serum iron studies, including transferrin saturation
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| darkhorse
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The answer is D.
Hemochromatosis is a common disorder of iron storage in which inappropriate increases in
intestinal iron absorption result in excessive deposition in multiple organs but predominantly in
the liver. There are two forms: hereditary hemochromatosis, in which the majority of cases are
associated with mutations of the HFE gene, and secondary iron overload, which usually is
associated with iron-loading anemias such as thalassemia and sideroblastic anemia. Serum
ferritin testing and plasma iron studies can be very suggestive of the diagnosis, with the ferritin
often >500 g/L and transferrin saturation of 50 to 100%. However, these tests are not
conclusive, and further testing is still required for the diagnosis. Although liver biopsy and
evaluation for iron deposition or a hepatic iron index (g/g dry weight)/56 x age > 2 is the
definitive diagnosis, genetic testing is widely available today, and because of the high
prevalence of HFE gene mutations associated with hereditary hemochromatosis, it is
recommended for diagnostic evaluation. If the genetic testing is inconclusive, the invasive liver
biopsy evaluation may be indicated.
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