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 Case Studies
Case Study 5: A healthy young man with no family history of
hemochromatosis.
Jon is a 36-year-old white male of British descent with no complaints. He
is an executive and recently completed an annual physical exam as required
by his employer. Blood collected for screening purposes revealed a random
elevated transferrin saturation of 82%. Past Medical History:
- No significant past medical history.
- Denies routine blood donation.
Family History:
- No significant family history.
Social History:
- Active and apparently healthy.
- Single, no children.
- Denies alcohol use, denies recreational drug use, denies tobacco
use.
- Takes a multivitamin daily but is not sure if it contains iron;
enjoys oysters on the half shell and sushi; denies eating red meat
or organ meat; denies drinking coffee, teas, or caffeinated beverages.
Physical Exam:
- Normal.
- Height: 5'10" Weight: 185 lbs.
- Vital signs: within normal limits.
After reviewing Jon's medical record, please respond to the
questions below with your best possible answers. Response formats vary
within the case study. Some questions will be open-ended, requiring you to
compare your response to the expert opinion. Other questions will be
multiple choice or drop-down choices.
| Jon's lab
results are |
| Serum Ferritin
|
600 ng/mL |
| Transferrin
Saturation (Fasting)
|
80% |
| Hemoglobin
|
14.5 |
| Hematocrit
|
44% |
| ALT |
normal |
| AST |
normal |
|
Progress note:
The treatment plan:
- Quantitative phlebotomy of 500 mL of whole blood per week with
careful monitoring of appropriate blood tests.
- Monitor serum ferritin every 4–8 weeks over the course of phlebotomy
treatments. Continue to monitor patient’s health status, hemoglobin, and hematocrit over the course of the phlebotomy treatments.
Your discussion with the patient includes:
- Pre- and post-phlebotomy care.
- Family-based detection for siblings and parents and the importance
of urging them to undergo biochemical testing.
- Options for genetic testing.
- Based on his social history, dietary modifications as an adjunct to
phlebotomy treatment. In particular, clarify that he should eliminate
iron supplements and multivitamins containing iron, and consumption of
raw shellfish.
After reviewing Jon’s medical record and most recent progress note,
please respond to the questions below with your best possible answers.
Response formats vary within the case study. Some questions will be
open-ended, requiring you to compare your response to the expert opinion.
Other questions will be multiple choice or drop-down choices.
Summary of Case Study
- During the course of his routine yearly physical exam, a wide panel
of blood tests were ordered for this patient.
- The elevated transferrin saturation led to the early detection of
iron overloading and early intervention with phlebotomy in this patient who
has no signs, symptoms, or family history.
- Instruct the patient about his diet as an adjunct to phlebotomy
treatment: Avoid using iron supplements or multivitamins containing
iron, and avoid eating raw shellfish.
- The patient should be encouraged to discuss his diagnosis with
family members and urge them to have their iron status evaluated with
biochemical testing.
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