Hemochromatosis Quiz: Ace Your Exams
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A 63-year-old woman comes to the family medicine PA for evaluation of joint pains in her arms and legs, which have been going on for the past three months. She is an avid tennis player, and the pain has been interfering with her practice. She has also been feeling more fatigued and experienced a loss of libido over this same time period. Her last menstrual period was 12 years ago. She recently traveled to Costa Rica with her partner where they ate local food. Vitals are within normal limits. Her BMI is 22 kg/m2. Physical examination shows diffuse tanning of her skin. Her skin is cool and dry. The liver is palpated 4 cm below the costal margin and is mildly tender to palpation. Laboratory studies are as follows:
Which of the following is the most likely diagnosis?
| Laboratory value | Result |
| Sodium | 138 mEq/L (reference range: 136-146 mEq/L) |
| Potassium | 4.8 mEq/L (reference range: 3.5-5 mEq/L) |
| Chloride | 95 mEq/L (reference range: 95-105 mEq/L) |
| Glucose | 162 mg/dL (reference range: 70-110 mg/dL) |
| TSH | 8.7 uU/mL (reference range: 0.5-5 µU/mL) |
| AST | 99 U/L (reference range: 8-40 U/L) |
| ALT | 125 U/L (reference range: 8-40 U/L) |
| Hemoglobin | 13.8 g/dL (reference range: 12-16 g/dL) |
| Iron Studies | |
| Serum iron | 198 μg/dL (reference range: 50-170 μg/dL) |
| Ferritin | 425 ng/mL (reference range: 12-150 ng/mL) |
| Total iron binding capacity | 145 μg/dL (reference range: 251-406 μg/dL) |
Which of the following is the most likely diagnosis?
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