Training & Education - Case Studies

Case Study 4: An African American man may be susceptible to hemochromatosis.

Patrick is a 50-year-old overweight African American male with complaints of abdominal pain.

Past Medical History:

• Recently diagnosed with diabetes, which is well controlled by diet and oral agents.
• Denies routine blood donation.

Family History:

• Mother age 75 with adult-onset diabetes and arthritis.

Social History:

• Drinks a glass of wine occasionally with dinner, denies use of tobacco, denies use of recreational drugs.
• Eats red meat and "fried foods." Denies eating raw shellfish.

Physical Exam:

• Possible palpable liver.
• Height: 5'10" Weight: 205 lbs.
• Vital signs: Within normal limits.

After reviewing Patrick'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: Although hemochromatosis typically affects people of European descent, what factors may affect the clinical expression of hemochromatosis? Include signs or symptoms that would cause you to consider the possibility of iron overload in this patient. Type your answers in the space below. <!-- -->

A fasting specimen was collected to measure serum iron and total iron-binding capacity, which allows for the calculation of transferrin saturation. Serum ferritin was also obtained.

Patrick's lab results are: Serum Ferritin 90 ng/mL Transferrin Saturation (Fasting) 43% Hemoglobin 14 Hematocrit 40% ALT 2 × normal AST 2 × normal

Question 2: Type the treatment plan for Patrick in the space below: <!-- -->

Question 3: Type the points you would cover in your discussion with Patrick in the space below: <!-- -->

Summary of Case Study

• African Americans may be at risk for hemochromatosis. Patrick’s symptoms are vague and required evaluation of serum iron measures.
• Although it is rare to find HFE mutations in African Americans with iron overload (McNamara L, 1998), these mutations have been found in a few individuals (Barton JC and Acton RT, 2000 and 2001). It has been suggested that their appearance is due to admixture. Current research suggests that genes other than HFE are responsible for the majority of iron overload in African Americans.
• The patient's liver disease does not appear to be related to iron overload.

Claire Jon