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NBME 22 Answers

nbme22/Block 1/Question#28

A 48-year-old man comes to the physician because of ...

Transferrin saturation and serum ferritin measurements

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submitted by lamhtu(31),

Hemochromatosis associated with HLA-A3, but the appropriate screening test is serum transferrin saturation and ferritin levels

 +2  upvote downvote
submitted by keycompany(123),

While this question stem is vague, the most likely diagnosis is Hereditary Hemochromatosis.

Iron accumulation causes free radical damage in organs:

  • liver → dysfunction / ascites / cirrhosis
  • pancreas → glucose intolerance (diabetes)
  • heart → cardiac enlargement (LVF can leads to prominent pulmonary vasculature)

Also notice patient + older brother are >40, which is when total iron body accumulates enough to cause symptoms.

Hemochromatosis (Auto Recessive HFE Gene on Ch.6) Labs :

↑↑ Serum Iron & Ferritin & Transferrin saturation