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45 yo M w/ FH cirrhosis has fatigue, poor libido, mild elevations in hepatic transaminases AST 62,ALT 74, elevated ferritin 650&transferrin saturation 70%. next step in evaluation?

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Final answer:

The patient's symptoms and lab results suggest hereditary hemochromatosis. Genetic testing for HFE gene mutations is recommended as the next step, supplemented by liver imaging to assess organ damage.

Step-by-step explanation:

Next Step in Evaluation for Suspected Hemochromatosis

The 45-year-old male patient with a family history of cirrhosis presenting with fatigue, poor libido, and mild elevations in hepatic transaminases (AST and ALT), as well as an elevated ferritin level and transferrin saturation, is suggestive of hemochromatosis. Given the clinical presentation and laboratory findings, the next step in evaluation should be genetic testing for hereditary hemochromatosis, specifically looking for mutations in the HFE gene, which are commonly associated with this condition. Confirming the diagnosis is important for the management of the disease and for screening family members who may also be at risk.

An additional assessment of liver function and structure may also be considered, such as a liver ultrasound or liver MRI, in order to evaluate the extent of liver damage that may have occurred due to iron overload. If hereditary hemochromatosis is confirmed, phlebotomy would be the treatment of choice to reduce iron levels. It is also relevant to monitor for other complications of hemochromatosis, such as endocrinopathies, cardiomyopathies, and arthropathy.

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