Hemochromatosis in an Adult Female With Previous Iron Deficiency Anemia on Iron Supplementation.

ABSTRACT

A 56-year-old female presented with a diagnosis of iron deficiency anemia over three years prior (on oral iron supplementation) and presented with altered mental status. She was admitted to the Coronary Care Unit for troponinemia and T-wave inversions. Two-dimensional echocardiography revealed hypokinesia of the left ventricle (LV) anterior wall with reduced ejection fraction. The patient was stabilized on metoprolol and heparin infusions, but heparin was discontinued after iron studies revealed overload (iron 159 ug/dL, 100% saturation, ferritin 1480 ng/mL). Cardiac MRI revealed mixed concentric-eccentric LV hypertrophy, raising concern for severe iron overload. Mutation analysis of the HFE  (homeostatic iron regulator) gene responsible for hereditary hemochromatosis was negative for a homozygous mutation. Hematology was consulted to establish outpatient follow-up and consider treatments for the acquired hemochromatosis. Acquired hemochromatosis typically occurs in the setting of multiple blood product transfusions. Oral supplementation is typically mitigated by limited bioavailability. Follow-up was needed to track the patient's iron deficiency anemia and identify resolution and potential toxicity. Further research into predisposing factors for hemochromatosis in patients on oral supplementation without HFE mutations is indicated.