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MichaelCase 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.

Question 1: In the space below, type the factors that may affect the clinical expression of hemochromatosis. Also type signs and symptoms that would heighten your suspicion that Michael may have hemochromatosis:

Michael had a random TS test 2 years ago.
The result was 65%. Michael vaguely remembers this and states, "It seemed unimportant at the time."

Serum iron and total iron-binding capacity were collected from a fasting draw, these allow for calculation of transferrin saturation. Serum ferritin was also collected.

Michael's lab results:
Serum Ferritin1000 ng/mL
Transferrin Saturation (Fasting)97%
Hemoglobin13.5
Hematocrit40%
ALT2 × normal
AST2 × normal


Question 2: Type the treatment plan for Michael in the space below:



Question 3: Complete the order form below to initiate quantitative phlebotomy:
Phlebotomize of whole blood with careful monitoring of the appropriate blood tests over the course of the phlebotomy treatments.



Question 4: Type the points you would cover in your discussion with Michael in the space below:



Question 5: As you discuss the plan of care with Michael, he asks if he should follow any dietary restrictions or modifications. Which of the following dietary modifications would you suggest? (click all that apply).
Select the best answer(s) below:
Avoid iron supplements or multivitamins with iron.
Eliminate alcohol consumption.
Avoid eating raw shellfish.
Limit vitamin C supplements to 500 mg/day.

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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