Hemochromatosis Quiz: Ace Your Exams

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 A 46-year-old man presents to the outpatient clinic for regular follow-up. He currently has no symptoms other than fatigue, which he attributes to an increased workload. Past medical history is unremarkable, and he takes no regular medications except occasional ibuprofen for joint pain in the hands. He does not smoke cigarettes and does not drink alcohol. Family history is significant for liver transplantation in the patient's brother at age 40 due to end-stage liver disease. Temperature is 37oC (98.6 F), heart rate is 80 bpm, respirations are 18, and blood pressure is 130/95 mmHg. The patient’s skin appears bronze. Cardiopulmonary examination is unremarkable. On abdominal examination, the lower border of the right liver lobe is felt 5 cm below the costal margin. Laboratory results are shown below. Which of the following represents the primary management for this patient’s diagnosis?  

 Laboratory value   Results  Reference 
 Hemoglobin   14 g/dL  13.5-17.5 g/dL 
 Platelets   165,000/mm3  150,000-400,000/mm3 
 Leukocyte count   7,500/mm3  4,500-11,000/mm3 
 INR   1.1  1.0 
 Iron   430 µg/l  50-150 mcg/dL 
 Ferritin  560 μg/L  15-200 ng/mL 
 Transferrin saturation  69%  20-50% 
 AST  96 U/L  8-20 U/L 
 ALT   60 U/L  8-20 U/L 
 Albumin   3.6 g/dL  3.5-5.5 g/dL 
 Bilirubin (Total)  0.6 mg/dL  0.1-1.0 md/dL 
 HBA1C  8%  Up to 6% of hemoglobin 
 

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