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Case Studies
Case Study 1: A middle-aged man with nonspecific complaints and a
suggestive family history.
Michael is a 46-year-old white male
of European descent with complaints of joint pain in his knees and hands. He
also states he is concerned because two siblings died in the past year.
Past Medical History:
- Numerous office visits over 3–4 years for complaints of fatigue,
weakness, and pain.
- Denies routine blood donation.
Family History:
- Father died at age 55 from myocardial infarction.
- Mother alive and apparently healthy.
- Brother died at age 53 of esophageal varices. Autopsy records
indicate the liver showed evidence of iron overload.
- Sister died at age 49 of liver cancer. Autopsy records for sister
are not available.
- Brother age 43 alive and apparently healthy.
- Sister age 40 alive and apparently healthy.
Social History:
- Drinks "a couple of beers a week," denies tobacco use, denies
recreational drug use.
- Denies multivitamin use.
Physical Exam:
- Mild hepatomegaly.
- Modest enlargement of the second and third metacarpal-phalangeal
joints.
- Knees have no effusions.
- Height: 5'11" Weight: 195 lbs.
- Vital signs within normal limits.
After reviewing Michael’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.
Summary of Case Study
- Michael visited multiple doctors before receiving the correct
diagnosis.
- Family history is highly suggestive; his brother’s autopsy records
indicate the presence of iron in the liver.
- The serum ferritin of 1000 ng/mL and elevated ALT and AST levels
require follow up with a hepatologist. Results of a liver biopsy may
help confirm iron overload, exclude other co-existent liver pathology
and determine the prognosis. If cirrhosis is present, this may warrant
ongoing follow-up for early detection of hepatoma and signs of liver
dysfunction.
- Instructions to Michael about his diet, as an adjunct to phlebotomy
treatment:
- Avoid using iron supplements or multivitamins containing iron.
- Avoid using alcoholic beverages.
- Avoid eating raw shellfish.
- Limit vitamin C supplements to 500 mg/day
- 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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