Hemochromatosis

Jacobo Wortsman, M.D.

N Engl J Med 1996; 335:1815December 12, 1996

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Figure 1 A 62-year-old woman who was euthyroid while taking levothyroxine for radioactive iodine–induced hypothyroidism was noted to have trophic changes in her fingernails. The physical examination was otherwise normal. During a search for subclinical iron deficiency, her serum ferritin concentration was found to be 3583 ng per milliliter (normal range, 30 to 300). The only abnormality on liver-function testing was an aspartate aminotransferase concentration of 39 U per liter (normal range, 0 to 30). A liver biopsy showed deposition of iron in the hepatocytes with sparing of Kupffer's cells and mild chronic inflammation in the portal triads. The hepatic-tissue iron concentration was 15,538 μg per gram of dry weight (normal range for women, 100 to 1600).

Magnetic resonance imaging showed diffuse decreased T₁- and T₂-weighted signals within the liver, seen as darkening of the organ (Panel A). After 32 phlebotomies over a period of 14 months (total blood volume removed, 16 liters), the serum ferritin concentration was 606 ng per milliliter and magnetic resonance imaging (Panel B) showed almost complete resolution of the abnormality.

After 34 phlebotomies, the hemoglobin concentration was 12.6 g per deciliter and the hematocrit was 37.3 percent; after 36 phlebotomies, the serum ferritin concentration is currently 315 ng per milliliter. The fingernail dystrophy remains unchanged. Family screening for hemochromatosis has shown that three of the patient's five children are affected, as well as one of her five siblings (he is currently being treated with phlebotomy).

Kim Eagle, M.D.

Jacobo Wortsman, M.D.
Southern Illinois University, Springfield, IL 62794-9230

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