A 53-year-old man presents to his physician's office for an insurance physical. During the history, you learn that his father had diabetes and died of congestive hea failure. The patient was told it was due to "bronze diabetes." The patient complains only of vague fatigue and ahralgias. You are concerned that the patient may be at risk for hereditary hemochromatosis. Which test would you order to confirm your suspicion?
The recommended screening test for hemochromatosis is serum transferrin saturation Molecular testing can be performed to look for mutations in the HFE gene on chromosome 6. Early detection and occasional phlebotomy can prevent multi-organ failure attributed to iron accumulation in tissues. -Antimitochondrial antibodies are used in the diagnosis of primary biliary cirrhosis. -Ceruloplasmin levels are decreased in Wilson disease.
Antimitochondrial antibodies
Ceruloplasmin
Heterophil antibodies
Transferrin saturation
Miscellaneous